Hypokortikalismus, též adrenokortikální insuficience (AI), je stav, kdy kůra nadledvin neprodukuje dostatečné množství hormonů, zejména kortizolu. Postupně se rozvíjející insuficience může hlavně u seniorů unikat pozornosti, a to pro své nespecifické příznaky, které mohou být snadno zaměněny za jiné zdravotní problémy spojené s věkem. V této kazuistice je prezentován případ pacientky, u které se rozvinul funkční hypokortikalismus po krátkodobé terapii vysokými dávkami glukokortikoidů v rámci léčby covidu-19. Pacientka byla opakovaně vyšetřována pro nespecifické potíže zahrnující kolapsové stavy při hypotenzi a nechutenství s následným váhovým úbytkem. K odhalení správné diagnózy nakonec vedl opakovaný nález hyponatremie. Po zahájení terapie se stav pacientky výrazně zlepšil.
Hypocortical insufficiency (AI) is a condition in which the adrenal cortex does not produce sufficient amounts of hormones, especially cortisol. Gradually developing insufficiency can go unnoticed, especially in the elderly, due to its nonspecific symptoms that can easily be mistaken for other age-related health problems. This case report presents the case of a patient who developed functional hypocorticism after short-term therapy with high doses of glucocorticoids as part of the treatment of covid-19. The patient was repeatedly examined for nonspecific problems including collapse states with hypotension and anorexia with subsequent weight loss. The correct diagnosis was finally revealed by repeated findings of hyponatremia. After starting therapy, the patient‘s condition improved significantly.
Angioedém je otok zahrnující podkožní a/nebo submukózní vrstvy tkáně, které postihují obličej, rty, krk a končetiny, dutinu ústní, hrtan a/nebo střevní sliznici. Diferenciální diagnostika angioedémů je mezioborová. Z hlediska patofyziologie může být angioedém klasifikován jako angioedém zprostředkovaný histaminem a angioedém zprostředkovaný bradykininem. Histaminem zprostředkovaný angioedém je častější a souvisí s aktivací a degranulací žírných buněk a bazofilů, bývá provázen svědivou a zarudlou urtikárií. Angiedém zprostředkovaný bradykininem může zahrnovat formy hereditárního angioedému, získaného deficitu C1 inhibitoru a angioedémy spojené s inhibitorem angiotenzin-konvertujícího enzymu či dalších léků. Je charakterizován nadměrnou lokální tvorbou bradykininu se vznikem bolestivého angioedému, není spojen se svědivou kopřivkou, má delší trvání a často břišní příznaky. Je rezistentní vůči standardním terapiím, jako je adrenalin, glukokortikoidy a antihistaminika. V rámci diferenciální diagnostiky v akutní fázi je vhodné provést laboratorní vyšetření tryptázy k odlišení histaminového angioedému v souběhu anafylaxe a C4 složku komplementu jako screening pro bradykininový angioedém. Hereditární angioedém (HAE) je vzácné, geneticky podmíněné onemocnění s autozomálně dominantním přenosem a variabilním spektrem bradykininových angioedémů. V širším kontextu se jedná o imunodeficitní onemocnění, klasifikované na HAE s deficiencí C1 inhibitoru (HAE-C1-INH) a HAE s normální hladinou a funkcí C1 inhibitoru (HAE nC1-INH), s mutacemi jiného (mnohdy ještě neznámého) typu. Vznik center pro diagnostiku a péči o pacienty s HAE a získanými bradykininovými angioedémy (AAE) významně zlepšil životní osudy těchto pacientů. Do center jsou konzilárně odesíláni i pacienti s atypickými angioedémy (s převahou bradykininové etiologie).
Angioedema is swelling involving the subcutaneous and/or submucosal layers of tissue that affects the face, lips, neck and extremities, oral cavity, larynx, and/or intestinal mucosa. The differential diagnosis of angioedema is interdisciplinary. From a pathophysiological perspective, angioedema can be classified as histamine-mediated angioedema and bradykinin-mediated angioedema. Histamine-mediated angioedema is more common and is associated with activation and degranulation of mast cells and basophils, and is often accompanied by pruritic and erythematous urticaria. Bradykinin-mediated angioedema can include forms of hereditary angioedema, acquired C1 inhibitor deficiency, and angioedema associated with angiotensin-converting enzyme inhibitors or other drugs. It is characterized by excessive local production of bradykinin with the development of painful angioedema, is not associated with pruritic urticaria, has a longer duration, and often has abdominal symptoms. It is resistant to standard therapies such as adrenaline, glucocorticoids, and antihistamines. As part of the differential diagnosis in the acute phase, it is appropriate to perform a laboratory test for tryptase to differentiate histamine angioedema in conjunction with anaphylaxis and the C4 component of complement as a screening for bradykinin angioedema. Hereditary angioedema (HAE) is a rare, genetically determined disease with autosomal dominant transmission and a variable spectrum of bradykinin angioedema. In a broader context, it is an immunodeficiency disease, classified into HAE with C1 inhibitor deficiency (HAE-C1-INH) and HAE with normal levels and function of C1 inhibitor (HAE nC1-INH), with mutations of another (often still unknown) type. The establishment of centers for the diagnosis and care of patients with HAE and acquired bradykinin angioedema (AAE) has significantly improved the lives of these patients. Patients with atypical angioedema (with a predominance of bradykinin etiology) are also referred to the centers.
- MeSH
- Angioedema etiology classification therapy MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Angioedemas, Hereditary * diagnosis genetics physiopathology therapy MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Age of Onset MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
- Review MeSH
Background: The surgical procedure of feminizing genitoplasty aims at restoration of normal anatomy and function in various cases of disorders of sexual development with ambiguous genitalia. Material and methods: Between April 2021 and May 2023, 23 patients underwent a single stage feminizing genitoplasty procedure at the department of plastic and reconstructive surgery. All the patients underwent clitoroplasty with partial glans preservation, omega flap vaginoplasty and labioplasty. Cases with only clitoroplasty were excluded from the study. Of these 23 patients, 17 had congenital adrenal hyperplasia and the rest 6 had varying degrees of androgen insensitivity syndrome. The age of the patients ranged from 4 to 23 years and all were raised as females. The mean operating time was around 120 to 150 minutes and average hospitalization period was 7 to 8 days. At follow-up evaluation, no major complications were observed. In all cases the vaginal introitus was located in the physiological position and was of varying size and elastic. Conclusion: This procedure of single stage feminizing genitoplasty enables reconstruction with good cosmetic and functional results not only in children but also in adults presenting with ambiguous genitalia.
- Keywords
- feminizující genitoplastika,
- MeSH
- Child MeSH
- Gynecologic Surgical Procedures * methods MeSH
- Adrenal Hyperplasia, Congenital surgery physiopathology MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Disorders of Sex Development * surgery physiopathology MeSH
- Androgen-Insensitivity Syndrome surgery physiopathology MeSH
- Plastic Surgery Procedures methods MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Female MeSH
- Publication type
- Clinical Study MeSH
Akutní alkoholová hepatitida je život ohrožující stav s nepříznivou prognózou charakterizovaný ikterem a deteriorací jaterních funkcí za podmínky prokázaného abúzu alkoholu. Před zahájením terapie je nutné vyloučit spolupodíl jiné etiologie a zhodnotit závažnost stavu dle některého ze skórovacích systémů. Zatím jedinou specifickou terapií je systémová kortikoterapie, která se podává pouze pacientům s těžkou formou akutní hepatitidy. Podpůrnou léčbu by pak měli obdržet všichni pacienti bez výjimky. V rámci studií byla zkoumána další léčiva a postupy, z nichž některé se zdají být slibné.
Acute alcoholic hepatitis is a life-threatening condition with an unfavorable prognosis, characterized by jaundice and acute deterioration of liver function in the context of proven alcohol abuse. Prior to initiating therapy, it is essential to exclude other potential etiologies and assess disease severity using validated scoring systems. To date, systemic corticosteroid therapy remains the only specific treatment recommended for severe hepatitis. Supportive care is indispensable and should be provided to all patients. Numerous other pharmacological agents and interventions are under investigation, some of which show promising potential.
- MeSH
- Hepatitis, Alcoholic * physiopathology therapy MeSH
- Adrenal Cortex Hormones pharmacology therapeutic use MeSH
- Humans MeSH
- Nutritional Support methods MeSH
- Plasmapheresis methods MeSH
- Liver Transplantation MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
Numulární ekzém je v pediatrické praxi relativně častý. Diagnostika a diferenciální diagnostika mohou být náročné. Předpokladem úspěchu je nejen správně zvolená a prováděná léčba, ale rovněž vhodná a pravidelná péče o kůži. Základními léky pro obnovení a udržení funkce kožní bariéry jsou emoliencia. Hlavními protizánětlivými léky jsou středně silné lokální kortikoidy s dobrým terapeutickým indexem. Způsob používání těchto extern je pro výsledek léčby stejně důležitý jako správná volba léku, proto jsou pro praxi krátce rozebrány strategie a režimy této léčby.
Nummular eczema is quite frequent in paediatric practice. Diagnostics and differential diagnostics can be challenging. Differential diagnosis is presented in a tabular overview. Right chosen and properly done treatment as well as appropriate and regular skin care are prerequisites for treatment success. Emollients are the basic drugs for restoring and maintaining skin barrier function. Topical corticosteroids of moderate strenght with good therapeutic index are the main anti-inflammatory drugs. The way, how these topicals are used, is for the result of therapy as important as the correct choice of drug, therefore the strategies and regimens of their use in practice are briefly discussed.
- Keywords
- nummular eczema in children,
- MeSH
- Dermatitis, Atopic diagnosis etiology drug therapy MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Eczema * diagnosis etiology drug therapy classification MeSH
- Emollients administration & dosage pharmacology therapeutic use MeSH
- Adrenal Cortex Hormones pharmacology therapeutic use MeSH
- Humans MeSH
- Disease Management MeSH
- Tinea diagnosis etiology drug therapy MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Review MeSH
BACKGROUND: Patients with schizophrenia frequently encounter challenges related to sexuality and intimacy; however, the underlying causes of these difficulties remain unknown and unexplored. AIM: This narrative review aims to explore how the biological/hormonal and psychological/behavioral developmental trajectories in schizophrenia patients deviate from the normal course and to examine their connection to difficulties in sexual and romantic functioning. METHODS: A comprehensive literature search was conducted using PubMed and Google Scholar, with key terms related to schizophrenia and sexual development without restriction on publication year. Articles discussing behavioral, sexual, or psychological/behavioral development before the onset of schizophrenia were included. Articles were divided into biological/hormonal and psychological/behavioral precursor categories. Additional searches were conducted to explore the broader sociocognitive context of schizophrenia, such as deficits in empathy, emotional processing, and theory of mind. OUTCOMES: The review highlights deviations in both biological/hormonal and psychological/behavioral development in schizophrenia that contribute to difficulties in romantic and sexual relationships. RESULTS: This narrative review addresses the extent to which biological, psychological, and social factors in schizophrenia may be closely intertwined. Abnormalities in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal axes have been documented in individuals with schizophrenia, potentially impairing sociosexual competencies and leading to behavioral challenges in forming sexual relationships. Deficits in theory of mind, emotional processing, and empathy may further hinder the ability to form and sustain intimate relationships, amplifying the social difficulties associated with schizophrenia. Additionally, early life traumas, especially sexual abuse, can contribute to sexual difficulties and worsen the disorder. CLINICAL TRANSLATION: Understanding the deviations from the normal developmental course in schizophrenia patients may offer valuable insights for potential intervention strategies and remediation approaches and contribute to improvements in sexual/romantic functioning and overall sexual health in schizophrenia patients. STRENGTHS AND LIMITATIONS: This review provides an overview of the developmental precursors of schizophrenia-related sexual/romantic difficulties. Further research is needed to elucidate the specific mechanisms underlying these difficulties, particularly in determining the emotional and motivational salience of sexual stimuli and the capacity to engage in and maintain communication of sexual interest. The reader should bear in mind that narrative reviews lack systematic methods for selecting and evaluating studies, which can lead to author bias in choosing or interpreting sources. CONCLUSION: The narrative review identified deviations in the biological/hormonal and psychological/behavioral developmental trajectories of schizophrenia patients, linking these abnormalities to difficulties in sexual and romantic functioning, and highlighting the need for sexological remediation strategies to improve sociosexual competencies and overall sexual health.
- Publication type
- Journal Article MeSH
- Review MeSH
BACKGROUND: We report four pediatric subjects with Cushing's disease (CD) diagnosed in the Czech Republic. We focus on initial symptoms of Cushing's syndrome (CS) which can lead to early diagnosis, on typical symptoms of CS in children, their age and sex distribution, the mean length of symptoms prior to diagnosis, indication for examination, post-cure growth, sexual development and pituitary function in our four CD patients after transsphenoidal pituitary surgery (TSS). We describe the diagnostic process leading to confirmation of CD and we emphasize the biochemical and radiological diagnostic difficulties. CONCLUSIONS: Pediatric CD has a number of features distinct from adult CD. Our retrospective analysis confirmed the presence of growth retardation and change in facial appearance with development of moon face as the first symptoms of CS. According to our observation, growth retardation is prior to development of moon face. The other typical symptoms frequently seen in pediatric patients are pseudo-precocious puberty in both sexes, hirsutism in pubertal girls due to excessive adrenal androgen secretion and pubertal delay. A corticotropin-releasing hormone (CRH) test and especially bilateral inferior petrosal sinus sampling for ACTH (BIPSS) contribute to confirming the diagnosis of CD and excluding ectopic ACTH syndrome in children with unvisible adenoma on pituitary magnetic resonance imaging (MRI).
- MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Adult MeSH
- Pituitary ACTH Hypersecretion * diagnosis MeSH
- Humans MeSH
- Pituitary Neoplasms * MeSH
- Growth Disorders MeSH
- Retrospective Studies MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
- Geographicals
- Czech Republic MeSH
INTRODUCTION: Acute tubulointerstitial nephritis (ATIN) is a well-recognized cause of acute kidney injury (AKI) due to the tubulointerstitial inflammation. The aim of this study was to explore the clinical features, outcomes, and responses to corticosteroid treatment in patients with ATIN. METHODS: Patients with biopsy-proven ATIN, who were diagnosed between 1994 and 2016 at the Department of Nephrology, Charles University, First Faculty of Medicine, and General University Hospital in Prague, were included in the study. Patient demographics, the aetiological and clinical features, the treatment given, and the outcome at 1 year of follow-up were extracted from patient records. RESULTS: A total of 103 ATIN patients were analysed, of which 68 had been treated with corticosteroids. There was no significant difference in the median serum creatinine 280 (169-569) μmol/L in the conservatively managed group versus 374 (249-558) μmol/L in the corticosteroid-treated group, p = 0.18, and dependence on dialysis treatment at baseline at the time of biopsy (10.3 vs. 8.6%). During the 1 year of follow-up, those ATIN patients who had been treated with corticosteroids did better and showed greater improvement in kidney function, determined as serum creatinine difference from baseline and from 1 month over 1-year period (p = 0.001). CONCLUSIONS: This single-centre retrospective cohort study supports the beneficial role of the administration of corticosteroid therapy in the management of ATIN.
- MeSH
- Renal Dialysis * adverse effects MeSH
- Adrenal Cortex Hormones therapeutic use MeSH
- Nephritis, Interstitial * drug therapy diagnosis MeSH
- Creatinine MeSH
- Kidney pathology MeSH
- Humans MeSH
- Retrospective Studies MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Czech Republic MeSH
Tuberkulom mozku a tuberkulózní absces patří mezi vzácné ložiskové formy tuberkulózy postihující centrální nervový systém. Jejich klinická a morfologická prezentace může napodobit primární i sekundární mozkový tumor či bakteriální absces a být tak zdrojem diagnostických rozpaků. Cílem této práce je prezentovat kazuistiky dvou pacientů se solitárním ložiskem tuberkulózního původu a úskalí jeho diagnostiky. I přes dosud klesající incidenci tuberkulózy v ČR lze očekávat, že se s tímto onemocněním budeme nadále setkávat u pacientů na imunosupresivní terapii a obyvatel migrujících z endemických zemí. S ohledem na jejich relativně dobrou kurabilitu by tuberkulózní ložiska neměla být opomenuta v rámci diferenciální diagnostiky intracerebrálních expanzivních lézí.
Brain tuberculomas and tuberculous abscesses are rare focal manifestations of central nervous system tuberculosis. Their clinical and morphological presentation may mimic brain tumors or bacterial abscesses, and therefore be a source of diagnostic ambiguity. The goal of our presentation is to demonstrate two case reports of patients with a solitary lesion of tuberculous origin, and related diagnostic pitfalls. Despite the decrease in tuberculosis incidence in the Czech Republic, it is obvious that physicians may continue to encounter patients with immunosuppressive therapy and migrants from endemic regions. Regarding their relatively favorable therapeutic outcome, focal tuberculous lesions should be considered in the differential diagnosis of intracerebral expansions.
- MeSH
- Anticonvulsants therapeutic use MeSH
- Antitubercular Agents therapeutic use MeSH
- Biopsy MeSH
- Adult MeSH
- Fatal Outcome MeSH
- Adrenal Cortex Hormones therapeutic use MeSH
- Humans MeSH
- Magnetic Resonance Imaging methods MeSH
- Tomography, X-Ray Computed methods MeSH
- Aged MeSH
- Stereotaxic Techniques MeSH
- Tuberculoma, Intracranial * diagnosis therapy MeSH
- Tuberculosis diagnosis pathology therapy MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Publication type
- Case Reports MeSH
BACKGROUND: Thymic neuroendocrine tumor as a cause of Cushing syndrome is extremely rare in children. CASE PRESENTATION: We report a case of a 10-year-old girl who presented with typical symptoms and signs of hypercortisolemia, including bone fractures, growth retardation, and kidney stones. The patient was managed with oral ketoconazole, during which she experienced adrenal insufficiency, possibly due to either cyclic adrenocorticotropic hormone (ACTH) secretion or concurrent COVID-19 infection. The patient underwent a diagnostic work-up which indicated the possibility of an ACTH-secreting pituitary neuroendocrine tumor. However, after a transsphenoidal surgery, the diagnosis was not confirmed on histopathological examination. Subsequent bilateral inferior petrosal sinus sampling showed strong indications of the presence of ectopic ACTH syndrome. Detailed rereading of functional imaging studies, including 18F-FDG PET/MRI and 68Ga DOTATOC PET/CT, ultimately identified a small lesion in the thymus. The patient underwent videothoracoscopic thymectomy that confirmed a neuroendocrine tumor with ACTH positivity on histopathological examination. CONCLUSION: This case presents some unique challenges related to the diagnosis, management, and treatment of thymic neuroendocrine tumor in a child. We can conclude that ketoconazole treatment was effective in managing hypercortisolemia in our patient. Further, a combination of functional imaging studies can be a useful tool in locating the source of ectopic ACTH secretion. Lastly, in cases of discrepancy in the results of stimulation tests, bilateral inferior petrosal sinus sampling is highly recommended to differentiate between Cushing disease and ectopic ACTH syndrome.
- MeSH
- Cushing Syndrome etiology diagnosis surgery MeSH
- Child MeSH
- ACTH Syndrome, Ectopic * diagnosis surgery MeSH
- Ketoconazole therapeutic use MeSH
- Humans MeSH
- Thymus Neoplasms * complications diagnosis surgery pathology MeSH
- Neuroendocrine Tumors * complications diagnosis surgery pathology MeSH
- Thymectomy MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
