Overgrowth
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Malabsorption is a complex and multifaceted condition characterised by the defective passage of nutrients into the blood and lymphatic streams. Several congenital or acquired disorders may cause either selective or global malabsorption in both children and adults, such as cystic fibrosis, exocrine pancreatic insufficiency (EPI), coeliac disease (CD) and other enteropathies, lactase deficiency, small intestinal bacterial overgrowth (SIBO), autoimmune atrophic gastritis, Crohn's disease, and gastric or small bowel resections. Early recognition of malabsorption is key for tailoring a proper diagnostic work-up for identifying the cause of malabsorption. A patient's medical and pharmacological history is essential for identifying risk factors. Several examinations such as endoscopy with small intestinal biopsies, non-invasive functional tests and radiological imaging are useful in diagnosing malabsorption. Because of its high prevalence, CD should always be looked for in cases of malabsorption with no other obvious explanations and in high-risk individuals. Nutritional support is key in the management of patients with malabsorption; different options are available, including oral supplements, enteral or parenteral nutrition. In patients with short bowel syndrome, teduglutide proved effective in reducing the need for parenteral nutrition, thus improving the quality of life of these patients. Primary care physicians play a central role in the early detection of malabsorption and should be involved in multidisciplinary teams for improving the overall management of these patients. In this European consensus, involving ten scientific societies and several experts, we have dissected all the issues around malabsorption, including the definitions and diagnostic testing (Part 1), high-risk categories and special populations, nutritional assessment and management, and primary care perspective (Part 2).
- MeSH
- exokrinní pankreatická insuficience komplikace diagnóza MeSH
- fenotyp MeSH
- gastroenterologie * normy metody MeSH
- konsensus MeSH
- lidé MeSH
- malabsorpční syndromy * diagnóza terapie etiologie MeSH
- společnosti lékařské MeSH
- tenké střevo patologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- konsensus - konference MeSH
- práce podpořená grantem MeSH
- směrnice pro lékařskou praxi MeSH
- Geografické názvy
- Evropa MeSH
Malabsorption is a complex and multifaceted condition characterised by the defective passage of nutrients into the blood and lymphatic streams. Several congenital or acquired disorders may cause either selective or global malabsorption in both children and adults, such as cystic fibrosis, exocrine pancreatic insufficiency (EPI), coeliac disease (CD) and other enteropathies, lactase deficiency, small intestinal bacterial overgrowth (SIBO), autoimmune atrophic gastritis, Crohn's disease, and gastric or small bowel resections. Early recognition of malabsorption is key for tailoring a proper diagnostic work-up for identifying the cause of malabsorption. Patient's medical and pharmacological history are essential for identifying risk factors. Several examinations like endoscopy with small intestinal biopsies, non-invasive functional tests, and radiologic imaging are useful in diagnosing malabsorption. Due to its high prevalence, CD should always be looked for in case of malabsorption with no other obvious explanations and in high-risk individuals. Nutritional support is key in management of patients with malabsorption; different options are available, including oral supplements, enteral or parenteral nutrition. In patients with short bowel syndrome, teduglutide proved effective in reducing the need for parenteral nutrition, thus improving the quality of life of these patients. Primary care physicians have a central role in early detection of malabsorption and should be involved into multidisciplinary teams for improving the overall management of these patients. In this European consensus, involving 10 scientific societies and several experts, we have dissected all the issues around malabsorption, including the definitions and diagnostic testing (Part 1), high-risk categories and special populations, nutritional assessment and management, and primary care perspective (Part 2).
- MeSH
- celiakie diagnóza terapie MeSH
- dítě MeSH
- exokrinní pankreatická insuficience komplikace diagnóza terapie MeSH
- gastroenterologie * normy MeSH
- konsensus MeSH
- lidé MeSH
- malabsorpční syndromy * diagnóza terapie etiologie epidemiologie MeSH
- nutriční podpora * metody normy MeSH
- plošný screening * metody normy MeSH
- primární zdravotní péče normy MeSH
- směrnice pro lékařskou praxi jako téma MeSH
- společnosti lékařské MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- konsensus - konference MeSH
- Geografické názvy
- Evropa MeSH
V léčbě některých gastrointestinálních onemocnění u dětí se stále častěji využívají dietní opatření založená na vyloučení některé ze skupiny fermentabilních oligosacharidů, disacharidů, monosacharidů a polyolů ze stravy (low-FODMAP dieta). Následující text shrnuje podstatná doporučení užití diety s nízkým obsahem FODMAP a vychází ze stanoviska Evropské společnosti pro gastroenterologii, hepatologii a výživu (ESPGHAN) vydaného v září roku 2022. Sdělení obsahuje kromě dostupné evidence také doporučení týkající se zahájení, trvání, postupného ukončování, monitorování, odborného vedení, bezpečnosti a rizik low-FODMAP diety. Zatím existuje jen málo důkazů podporujících použití tohoto dietního opatření u dětí, a to prakticky jen u některých dětských pacientů trpících funkčními obtížemi gastrointestinálního traktu (FGID, functional gastrointestinal disorders). Konkrétně u dětí s funkčními bolestmi břicha (FAP, functional abdominal pain), kam se řadí např. syndrom dráždivého tračníku (IBS, irritable bowel syndrome) dle tzv. Římských kritérií IV z roku 2016. Aktuálně není evidence pro užití low-FODMAP diety u jiných gastrointestinálních onemocnění u dětí, jako je např. zácpa, zánětlivá střevní onemocnění, celiakie, neceliakální glutenová senzitivita či syndrom bakteriálního přerůstání.
Dietary measures based on the exclusion of fermentable oligo-, di-, monosaccharides, and polyols (low-FODMAP diet) are increasingly being used in treating certain gastrointestinal diseases in children. The following text summarizes essential recommendations for using the low-FODMAP diet, based on the position paper of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) issued in September 2022. It includes recommendations on initiation, duration, gradual cessation, monitoring, professional guidance, safety, and risks. Currently, there is limited evidence supporting the use of this diet in children, primarily only for some pediatric patients suffering from functional gastrointestinal disorders (FGID), specifically children with functional abdominal pain (FAP), such as irritable bowel syndrome (IBS) according to the Rome IV criteria from 2016. There is no evidence for the use of the low-FODMAP diet in other gastrointestinal diseases in children, such as constipation, inflammatory bowel disease, celiac disease, non-celiac gluten sensitivity, or small intestinal bacterial overgrowth.
- MeSH
- bolesti břicha diagnóza dietoterapie etiologie klasifikace MeSH
- dieta FODMAP * klasifikace metody MeSH
- dítě MeSH
- gastrointestinální nemoci * diagnóza dietoterapie MeSH
- lidé MeSH
- nutriční terapie klasifikace metody MeSH
- sacharidy aplikace a dávkování klasifikace MeSH
- syndrom dráždivého tračníku diagnóza dietoterapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- přehledy MeSH
Vývojová dysplázia bedra (Developmental Dysplasia of the Hip – DDH) je preartrotická chyba bedrového kĺbu vyžadujúca terapiu už od novorodeneckého veku. Slovenská populácia vykazuje nadpriemernú incidenciu DDH, preto je v Slovenskej republike zavedený skríning bedrového kĺbu metódou tzv. trojitého sita. Pri zistení najzávažnejšej formy dysplázie – luxácie bedrového kĺbu a prekážok brániacich repozícii hlavy stehennej kosti do acetabula, je indikovaná operačná liečba. Pri operácii je vykonaná evakuácia acetabula, teda odstránenie všetkých repozičných prekážok. Následne je doplnená acetabuloplastika podľa Degu a kapsuloplastika. V niektorých prípadoch je nutné stehennú kosť derotovať a skrátiť tak, aby bola zaistená stabilita bedra. V našej kazuistike publikujeme operačný priebeh a pooperačný výsledok u pacientky so subluxáciou hlavy femuru a výrazným zarastením acetabula fibróznym tukovým tkanivom. Pacientka je rok od operačnej liečby, acetabuloplastika poskytuje výborné krytie hlavy stehennej kosti. Hybnosť v bedre je zachovaná a k rozvoju avaskulárnej nekrózy nedošlo.
Developmental dysplasia of the hip (DDH) is a prearthrotic hip defect requiring therapy from neonatal age. The Slovak population has an above-average incidence of DDH, which is why hip screening using the triple-screen method has been introduced in the Slovak Republic. When the most severe form of dysplasia is detected – hip luxation and obstructions preventing the reposition of the femoral head into the acetabulum, surgical treatment is indicated. During surgery, evacuation of the acetabulum is performed, i.e. removal of all repositioning obstacles. Subsequently, a Dega acetabuloplasty and capsuloplasty are performed. In some cases, the femur has to be derotated and shortened to ensure hip stability. In our case report, we publish the operative course and postoperative outcome in a patient with subluxation of the femoral head and significant overgrowth of the acetabulum with fibrous adipose tissue. The patient is one year postoperatively and the acetabuloplasty provides excellent coverage of the femoral head. Hip mobility is preserved and there has been no development of avascular necrosis.
- MeSH
- acetabuloplastika * MeSH
- kojenec MeSH
- lidé MeSH
- vývojová dysplazie kyčelního kloubu * chirurgie diagnostické zobrazování MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
This study aimed to summarize our experience with modified drilling epiphysiodesis and prediction methods for accurate timing of surgery and to compare the results with those of recent work by other authors. The Macnicol and Gupta modified drilling technique was used. Distal femoral and/or proximal tibial permanent epiphysiodesis was performed in 42 children (21 boys, 21 girls; median age at surgery=12.6 years, age range=9.4-15.4 years) between 2004 and 2016. Based on the groundwork of previous studies, we developed an auxological prediction method. The limb length discrepancy (LLD) was assessed by clinical examination and verified by an x-ray of the hips when standing with blocks under the shorter leg. The predicted shortening was 2.7 cm ± 1.1 cm. The final discrepancy after finishing skeletal growth was 0.5 ± 0.5 cm. In 26 patients (61.9%), equalization of both legs was achieved (0-0.5 cm). In 4 patients (9.5%), the remaining shortening was more than 1.0 cm. Shortening of an initially longer leg occurred in two patients (0.5 cm and 0.6 cm). Failure of growth plate arrest was observed in 1 patient. In another 3 patients, the efficacy of tibial epiphysiodesis was unsatisfactory. Minor complications occurred in 5 cases, but there was no evidence of angular deformity in the frontal and sagittal planes or proximal fibula overgrowth. Three patients (7.1%) returned to the operating room. Compared to published data, more patients achieved complete equalization of leg length. The results of this study verified the accuracy of the auxological prediction algorithm of LLD based on Shapiro's findings. The surgical outcome is comparable between Shapiro patterns 1 and 3. Auxological examination, assessment of bone age, and sexual maturation are crucial tools for accurate timing of surgery.
- MeSH
- antropometrie metody MeSH
- dítě MeSH
- epifýzy * chirurgie MeSH
- femur * chirurgie MeSH
- lidé MeSH
- mladiství MeSH
- nestejná délka dolních končetin * chirurgie MeSH
- radiografie metody MeSH
- tibie chirurgie MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Súhrn: Hidradenitis suppurativa (HS) je chronický imunitne mediovaný zápal pilosebaceóznej jednotky a apokrinných potných žliaz s tvorbou bolestivých uzlov, abscesov, hnisajúcich fistúl a jaziev predilekčne v intertiginóznych priestoroch. U pacientov s HS je zvýšená incidencia zápalových ochorení čreva (IBD – inflammatory bowel disease), čo poukazuje na ich vzájomné priesečníky v patogenéze dysregulácie vrodenej a adaptívnej imunity. Nedávno sa výrazne zvýšil záujem o črevný mikrobióm kožných ochorení, predmetom záujmu je aj jeho úloha v patogenéze HS. Podľa literárnych údajov črevná dysbióza podporuje produkciu prozápalových cytokínov a následne tvorbu HS lézií. Syndróm prerastania baktérií v tenkom čreve (SIBO – small intestinal bacterial overgrowth) je stav, ktorý sa vyznačuje zvýšenou koncentráciou baktérií hrubého čreva v tenkom čreve. Eredikácia SIBO bola napr. schopná zlepšiť kožné prejavy pri psoriáze, v zmysle zníženia indexu jej závažnosti. V tomto kontexte existuje hypotéza, že eredikácia SIBO môže mať priaznivý vplyv na závažnosť prejavov zápalových imunitne mediovaných kožných ochorení, vrátane HS.
Hidradenitis suppurativa (HS) is a chronic immune-mediated inflammatory skin disease. It is characterized by an inflammation that affects apocrine gland bearing skin in axillae, groin and under the breasts with the formation of painful nodules, abscesses and purulent discharge, sinuses and scaring. Patients with HS have an increased incidence of inflammatory bowel disease (IBD), which also indicates their cross-sections in the pathogenesis of dysregulation congenital and adaptive immunity. Recently, there has been a significant increase of interest in the intestinal microbiome and skin disease, as much as its role in the pathogenesis of HS. According to literature, intestinal dysbiosis promotes the production of proinflammatory cytokines and consequently the formation of HS lesions. Overgrowth of bacteria in the small intestine (SIBO) is a condition characterized by an increased concentration of bacteria in the large intestine. Eradication of SIBO was able to improve psoriasis measured by the psoriasis severity index. In this context, it is hypothesized that eredication of SIBO may have a beneficial effect on the severity of manifestations in inflammatory immune-mediated skin diseases, including HS.
BACKGROUND: Heterozygous loss-of-function variants in CHD8 have been associated with a syndromic neurodevelopmental-disease spectrum, collectively referred to as CHD8-related neurodevelopmental disorders. Several different clinical manifestations, affecting neurodevelopmental and systemic domains, have been described, presenting with highly variable expressivity. Some expressions are well established and comprise autism spectrum disorders, psychomotor delay with cognitive impairment, postnatal overgrowth with macrocephaly, structural brain abnormalities, gastrointestinal disturbances, and behavioral and sleep-pattern problems. However, the complete phenotypic spectrum of CHD8-related disorders is still undefined. In 2021, our group described two singular female patients with CHD8-related neurodevelopmental disorder and striking dystonic manifestations, prompting the suggestion that dystonia should be considered a possible component of this condition. CASE SERIES PRESENTATION: We describe three additional unrelated female individuals, each carrying a different CHD8 frameshift variant and whose clinical presentations were primarily characterized by young-onset dystonia. Their dystonic manifestations were remarkably heterogeneous and ranged from focal, exercise-dependent, apparently isolated forms to generalized permanent phenotypes accompanied by spasticity and tremor. Neurocognitive impairment and autistic behaviors, typical of CHD8-related disorders, were virtually absent or at the mild end of the spectrum. CONCLUSIONS: This work validates our previous observation that dystonia is part of the phenotypic spectrum of CHD8-related neurodevelopmental disorders with potential female preponderance, raising new challenges and opportunities in the diagnosis and management of this condition. It also highlights the importance of in-depth neurologic phenotyping of patients carrying variants associated with neurodevelopmental disorders, as the connection between neurodevelopmental and movement disorders is proving closer than previously appreciated.
- MeSH
- dítě MeSH
- DNA vazebné proteiny * genetika MeSH
- dospělí MeSH
- dystonické poruchy genetika diagnóza patofyziologie komplikace MeSH
- dystonie genetika etiologie patofyziologie diagnóza MeSH
- fenotyp * MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- neurovývojové poruchy genetika diagnóza MeSH
- posunová mutace MeSH
- předškolní dítě MeSH
- transkripční faktory genetika MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
AIMS: The formal pathogenesis of salivary carcinosarcoma (SCS) remained unclear, both with respect to the hypothetical development from either preexisting pleomorphic adenoma (PA) or de novo and the clonal relationship between highly heterogeneous carcinomatous and sarcomatous components. METHODS AND RESULTS: We performed clinicopathological and molecular (targeted RNA sequencing) analyses on a large series of 16 cases and combined this with a comprehensive literature search (111 cases). Extensive sampling (average 11.6 blocks), combined with immunohistochemistry and molecular studies (PA-specific translocations including PLAG1 or HMGA2 proven in 6/16 cases), enabled the morphogenetic identification of PA in 15/16 cases (93.8%), by far surpassing a reported rate of 49.6%. Furthermore, we demonstrated a multistep (intraductal/intracapsular/extracapsular) adenoma-carcinoma-sarcoma-progression, based on two alternative histogenetic pathways (intraductal, 56.3%, versus myoepithelial pathway, 37.5%). Thereby, early intracapsular stages are identical to conventional carcinoma ex PA, while later extracapsular stages are dominated by secondary, frequently heterologous sarcomatous transformation with often large tumour size (>60 mm). CONCLUSION: Our findings strongly indicate that SCS (almost) always develops from PA, with a complex multistep adenoma-carcinoma-sarcoma-sequence, based on two alternative histogenetic pathways. The findings from this novel approach strongly suggest that SCS pathogenetically is a rare (3-6%), unique, and aggressive variant of carcinoma ex PA with secondary sarcomatous overgrowth. In analogy to changes of terminology in other organs, the term "sarcomatoid carcinoma ex PA with/without heterologous elements" might be more appropriate.
- MeSH
- dospělí MeSH
- lidé MeSH
- syndrom slepé kličky * diagnóza farmakoterapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- dechové testy metody MeSH
- endoskopie trávicího systému přístrojové vybavení MeSH
- fekální transplantace metody MeSH
- Helicobacter pylori patogenita MeSH
- idiopatické střevní záněty diagnóza farmakoterapie klasifikace MeSH
- kongresy jako téma MeSH
- lidé MeSH
- nádory slinivky břišní diagnóza mortalita prevence a kontrola MeSH
- nemoci trávicího systému * diagnóza klasifikace prevence a kontrola MeSH
- plošný screening MeSH
- syndrom slepé kličky diagnóza farmakoterapie MeSH
- výchova a vzdělávání MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- zprávy MeSH
