46 XY, Female. Complete androgen insensitivity syndrome: a case report

Introduction: Androgen insensitivity syndrome (AIS) is an inherited disorder of sexual development caused by mutations in the androgen receptor encoding gene. Case report: A female patient born in 1984, at the age of 17, was diagnosed with complete androgen insensitivity syndrome, during the diagnosis of primary amenorrhea. She was assigned grade 7 in the Quigley scale. Cytogenetic analysis showed a 46 XY karyotype. Gynecological examination revealed a blind ending vagina and a lack of uterus. Physical examination revealed normal breast development and scanty pubic and axillary hair. The patient kept seeing herself as a woman. At the age of 18, the patient underwent laparoscopic gonadectomy. After the procedure, the patient was under medical supervision and was taking orally 1 mg of estradiol daily. At the age of 24 patient was diagnosed with. The patient received sodium alendronate and ibandronic acid. The level of FSH was 35.50 mlU / ml and LH was 13.05 mlU/ml. Discussion: Quigley grades 6 and 7 correspond to complete androgen insensitivity. The genitals are completely feminized and newborns at birth are assigned as females. The diagnosis is usually established during the diagnostics of primary amenorrhea. CAIS is associated with high risks of gonad carcinogenesis and therefore a gonadectomy must be performed. Hormone replacement therapy (HRT) is required after gonadectomy in order to maintain secondary sexual characteristics. Due to the high risk of osteoporosis patient requires calcium and vitamin D supplementation and bone density control. The prognosis is good, and gonadectomy and HRT usually give satisfactory long-term results

Acute tonsillopharyngitis - a review

Introduction and purpose: Acute pharyngitis and tonsillitis is the most common reason why people want to visit their primary care physician. Viruses are the most common cause of acute pharyngitis and acute tonsillitis in children and adults. The patient complains about pain with sudden onset and throat irritation, pain on swallowing, fever and headache, and in children also abdominal pain, nausea and vomiting. Brief description of the state of knowledge: Most acute tonsillopharyngitis is due to rhinoviruses (35%), influenza (30%), RSV and parainfluenza. Bacteria causes 30% of the infections and S. pyogenes is the most common cause. Viral infections are seasonal. S.pyogenes infection is most often in winter and early spring. Changes in the pharyngeal mucosa look similar in both bacterial and viral etiologies. Because of that, scales have been developed to assess the probability of a bacterial infection. The most used is Centor / McIsaac scale. The gold standard of diagnostics is throat swab culture. In the treatment of streptococcal pharyngitis and tonsillitis, penicillins are used as first-line treatment. Antibiotic treatment reduces infectivity, lowers the risk of rheumatic fever and made symptoms disappear two days earlier. Tonsillectomy does not reduce the number of recurrent pharyngitis and tonsillitis, therefore it cannot be recommended. Conclusion: Acute tonsillopharyngitis can result in many complications, the most serious of them is rheumatic fever. Therefore, it is very important to properly diagnose and use antibiotic therapy when necessary

The popularity and usability of mobile applications for women and expecting mothers

Introduction and purpose: There are many applications for women, including those planning to conceive, being pregnant or having a small child. These applications have various functions, among others: menstrual cycle control, information about fetal development, labor contractions counting or lifestyle advice. Aim of the study was to assess the popularity, usability, most frequently used functions and expectations of users in relation to mobile applications designed for period tracking, for pregnant women and for parents. Material and methods: The study was conducted in the form of a self-prepared, anonymous survey shared on social media. Results: 522 correctly completed questionnaires were analysed. The main sources of knowledge about pregnancy and motherhood were: Internet (90.4%) and doctor (73.5%). 78.7% of participating women used period tracking applications. The most useful functions were: date of period (94.7%), fertile days and ovulation (86.4%) and menstrual cycle regularity (58,2%). 86.6% of women used pregnancy tracker applications. The most useful features were: information about week of pregnancy (98.5%), child development (95.3%) and countdown to childbirth (83%). Using application during pregnancy: 74.8% of women felt more aware and 68.6% enjoyed the expectation time more. Parenting applications were the least popular - only 25% of respondents used them. Conclusions: Thanks to the mobile applications, women can be more aware and better prepared for planning pregnancy and motherhood. Encouraging them to use the applications can bring many benefits in a doctor-patient relationships, provided that the information contained therein is properly constructed

Kawasaki disease: a comprehensive review

Introduction and purpose: Kawasaki disease is an acute, self-limited vasculitis of medium arteries, and it affects children under 5 years old. It can lead to coronary artery aneurysms. Brief description of the state of knowledge: Pathogenesis of Kawasaki disease is unclear. The diagnosis is based on the clinical findings. The characteristic symptoms are polymorphous skin rashes, conjunctivitis, erythema, dryness, cracking and bleeding of the lips, erythema and swelling of palms and soles and cervical lymphadenopathy. Kawasaki disease is defined as a fever for 5 days accompanied by 4 or more of the diagnostic symptoms described above. The classic diagnosis is based on the exclusion of other diseases too. The diagnosis of incomplete Kawasaki disease is suggested if less than 4 main clinical features are found.  It is the most common cause of acquired heart disease in children. Kawasaki disease can lead to coronary artery aneurysm, myocarditis and pericarditis so it is very important to treat this illness correctly. Basic treatment is a single infusion of intravenous immunoglobulin and high-dose aspirin. Recurrent Kawasaki disease (persistent fever after first line treatment with IVIG and aspirin) requires the same treatment as used for the first episode. Corticosteroids and immune-modulating therapies can be used as second and third line options. Quick recognition and early treatment result in a reduction of coronary artery abnormalities. Conclusion: This article reviews basic informations, history, epidemiology, pathophysiology, clinical presentation, diagnostic criteria, complications and treatment of Kawasaki disease

Hypothyroidism: clinical presentation, diagnosis, treatment

Introduction and purpose: Hypothyroidism is a common disorder of the endocrine system in which the thyroid gland is not able to produce enough of certain thyroid hormones. Brief description of the state of knowledge:  The prevalence of hypothyroidism is between 1 and 6% and it is more common in women and older adults. Untreated significantly decreases the quality of life and increases mortality. Symptoms of hypothyroidism are nonspecific and may be confused with signs of other clinical conditions. The most common symptoms are chronic tiredness and fatigue, weight gain, cold intolerance, dry skin and hair loss. Serum thyroid-stimulating hormone (TSH) is the primary screening test for thyroid disfunction. Standard treatment for hypothyroidism consists of thyroid hormone replacement called levothyroxine. Conclusion: This article reviews basic informations, clinical presentation, diagnosis and treatment of hypothyroidism

Comparison of intravascular and surgical treatment of ruptured intracranial aneurysms: A literature review

Introduction and purpose: Ruptured intracranial aneurysm causes a life-threatening subarachnoid hemorrhage, which is characterized by a high percentage of disability and mortality. As of today, we have two main treatments for this condition: microsurgical clipping and endovascular coil embolization. The aim of the study was to evaluate both treatment modalities, assess their limitations and compare them in terms of mortality, postoperative condition/complications and long-term patient’s condition Materials and methods: This study was based on the analysis of medical databases’ analysis. Results: Four randomized controlled trials, one guideline and one meta-analysis were reviewed. The results did not significantly differ between the studies. They proved that endovascular coiling technique showed fewer poor outcomes, deaths or dependency, one year after the treatment. These differences decreased in the following years. The microsurgical clipping was more effective at total obliteration of the aneurysm but was not related to better quality of life for those patients. Both techniques also did not differ in terms of the patients’ distant long-term neuropsychological state. Conclusion: Endovascular coiling embolization is still a rapidly developing technique that may be the main treatment modality in the future. However, at this point, both treatments have advantages and limitations. It is crucial to assess every patient individually

Urinary tract infections in children - a review

Introduction and purpose: Urinary tract infection (UTI) is very common, mostly bacterial infection in childhood. UTI may affect the lower urinary tract or the upper urinary tract. Infection typically require antibiotics for treatment.  Brief description of the state of knowledge:   The prevalence of urinary tract infection is between 2 and 8% and it is more common in  female, infants and uncircumcised male infants. Most paediatric UTIs are caused by Gram negative bacteria Escherichia coli (E.coli). Symptoms of this infection are nonspecific and may be confused with signs of other clinical conditions. The most common symptoms are suprapubic pain, back pain, dysuria, urinary frequency and systemic symptoms such as fever, vomiting, lethargy.  Antibiotics are the standard treatment for urinary tract infections.  Conclusion:  This article reviews basic informations, epidemiology, clinical presentation, diagnosis and treatment of urinary tract infection

Cardiac manifestations of multisystem inflammatory syndrome

Introduction and purpose: Multisystem inflammatory syndrome (MIS) in children and adolescents is an excessive inflammatory response syndrome after storage of COVID-19, which can lead to serious complications. The course of the disease may vary from mild to requiring intensive therapy. In our review, we try to draw attention to the importance of cardiological complications and present the currently used treatment. In medical professionals vigilant should be increased in order to early recognize this disease, and to be alert to the need for early cardiological evaluation and follow-up. Description of the state of knowledge: MIS can cause myocardial dysfunction, shock, coronary artery lesions, pericardial effusion, valvulitis, and electrophysiological abnormalities. Patients may require intensive medical care, careful fluid therapy, the use of pressor amines and, in rare cases, extra corporeal membranę oxygenation (ECMO). Coronary aneurysms are the most important long-term complication of MIS. They occur in up to 25% of patients. Most abnormalities are retreated within 2-3 months. MIS has a good prognosis with a mortality rate of 2%. Summary: Cardiac complications, although serious, rarely require urgent intervention. Patients with diagnosed dilatation of the coronary arteries or aneurysm require intensive medical review in the initial period of recovery. The control must include a medical examination, ECG, ECHO and evaluation of markers of myocardial damage. Patients who have undergone MIS should be released from physical education for at least 6 weeks or until the changes in the coronary arteries disappear. The lesions resolve spontaneously in 2-3 months in most patients and do not recur, suggesting the possibility of waiving long-term patient follow-up

Mechanical acne - a review of contributing factors and diagnostic-therapeutic approach

Introduction and purpose: Acne is a diverse, multifactorial disease. A specific subtype of acne is mechanical acne, which is recurrent acne that occurs at the site of physical trauma to the skin due to repeated mechanical or frictional obstruction of the pilosebaceous outlet. The aim of the article is to present the available information on the pathophysiology, clinical picture, diagnosis, and treatment of mechanical acne. Description of the state of knowledge: Mechanical acne may be a complication of preexisting acne or can occur independently in a patient with no previous history of acne. Inflammatory acneiform papules and pustules result from friction from repetitive rubbing, stretching, squeezing, pressure, tension, pinching, or pulling of the skin accompanied by heat, pressure, moisture, and occlusion. Mechanical stress on the skin can be triggered by any pressure or friction inducing physical factors, such as tight clothing, sports gear, accessories, medical equipment, seat backs or hands. Mechanical acne most commonly occurs in athletes and develops from wearing tight-fitting clothing, accessories, or equipment. The severity of lesions increases with excessive sweating and overheating of the skin. In the era of the COVID-19 pandemic, the incidence of mechanical acne caused by prolonged wearing of protective masks ("maskne") has also increased. Summary: The most important aspect of mechanical acne treatment and preventions is the identification and elimination (or at least minimization) of the inciting factors. Supporting activities include maintaining cleanliness, proper skin care and applying topical acne treatments. Some patients require oral pharmacotherapy. Preventing recurrence of mechanical acne is important as it can leave unsightly scars and skin discoloration

The influence of selected food ingredients on the reduction of the risk of endometriosis: a literature review

Endometriosis is a common disease that occurs in 6-10% of women of reproductive age. The disease is often associated with chronic pelvic pain and infertility. Endometriosis is an inflammatory disease and is estrogen dependent. Its definition is the presence of endometrial-like tissue outside the uterus. The etiology of the disease remains unclear. It is believed that a variety of immunological, genetic, hormonal, and environmental factors may be responsible for the development of endometriosis. Surgical confirmation of the presence of endometrial tissue outside the uterus is necessary for the diagnosis of endometriosis. For this reason, endometriosis is considered to be underdiagnosed. Currently, available treatments have many limitations and cause many side effects during their long-term use. For this reason, other treatment and prevention methods for this disease are being sought. Research on the influence of dietary factors on endometriosis allows concluding that diet and particular food ingredients can be considered a factor reducing the risk of endometriosis. Therefore, understanding the role of nutrition in the development of endometriosis is of great importance for the development of effective guidelines related to the prevention of this disease. Therefore, we have reviewed the available literature related to the impact of individual components of the daily diet on the risk of developing endometriosis. Omega-3 fatty acids, dairy products, and soy in particular appear to be promising dietary factors that could potentially reduce the risk of endometriosis. Further research is needed to solidify this knowledge