Disfunkcija spodnjih sečil, ki je tesno povezana z disfunkcijo črevesa, pomeni nepravilnosti v delovanju sečnega mehurja in sečnice. Različne vrste disfunkcije spodnjih sečil delimo glede na simptome ...in glede na vzrok, v katerega je usmerjeno zdravljenje. Nevrogena disfunkcija spodnjih sečil lahko povzroči nepopravljivo okvaro zgornjih sečil in spremembe stene mehurja dolgo pred tem, ko se klinično izrazi kot uhajanje urina. Zato je pomembno, da čimprej po rojstvu ugotovimo, za kakšno nevrogeno okvaro s posledično disfunkcijo spodnjih sečil gre, in stanje zdravimo proaktivno. Standardno zdravljenje nevrogene disfunkcije spodnjih sečil je čista intermitentna kateterizacija mehurja v kombinaciji z antiholinergikom. Nenevrogena disfunkcija spodnjih sečil z nenadnim tiščanjem na vodo, uhajanjem urina, sfinkter-detruzor dissinergijo in drugimi oblikami, je pogosto povezana s poslabšanjem kakovosti življenja in neugodno vpliva na otrokovo samopodobo. Otrok razvije različne vedenjske vzorce za odložitev uriniranja ali prekinitev nenadnega tiščanja na vodo. Z anamnestičnimi podatki ter z dnevnikom in klinično sliko diagnozo enostavno opredelimo in čim prej pričnemo z nefarmakološkimi ukrepi, standardnimi ukrepi in z različnimi vrstami specialne uroterapije.
Disfunkcija spodnjih sečil je klinično pomembna, ker lahko povzroča okužbe sečil zaradi zastajanja urina v sečnem mehurju, negativno vpliva na delovanje ledvic in povzroča uhajanje urina s posledično ...pomembnim zmanjšanjem kakovosti otrokovega življena. Delovanje spodnjih sečil je tesno povezano z delovanjem črevesa, saj zaprtje pogosto sovpada z motnjami v delovanju spodnjih sečil. Čezmerna aktivnost detruzorja, benigna, a socialno škodljiva motnja, je glavni vzrok dnevnega uhajanja urina pri otrocih in jo moramo razlikovati od motenj, ki bolj ogrožajo zgornja sečila, kot je nevro-gena disfunkcija mehurja ali zapora sečnice. Disfunkcionalno uriniranje je posledica habitualnega krčenja mišic medeničnega dna med uriniranjem in je pogosto pri otrocih z nenevrogeno čezmerno aktivnostjo detruzorja. Vodi lahko v zastajanje urina po mikciji in okužbe sečil, v hujših primerih pa pomeni tveganje okvare zgornjih sečil, podobno kot nevrogena disfunkcija spodnjih sečil. Slednja je najpogosteje posledica spinalnega disrafizma in se klinično kaže z več podtipi glede na aktivnost sfinktra in detruzorja. Zelo pogosto povzroča ponavljajoče se okužbe sečil in zvišan tlak v mehurju, kar ogroža delovanje ledvic. Pri začetni obravnavi disfunkcije spodnjih sečil pri otrocih je bistven pripomoček dnevnik uriniranja.
Paliativna oskrba otrok je specializirana paliativna oskrba z določenimi posebnostmi v primerjavi s paliativno oskrbo odraslih. Enačenje načel sodobne paliativne oskrbe otroka s protokoli opustitve ...in odtegnitve zdravljenja je odraz nepoučenosti in je povsem napačno. Multidisciplinarni tim za paliativno oskrbo otrok na terciarni ravni sestavljajo otrokovi lečeči subspecialisti, medicinske sestre, psiholog in po potrebi drugi zdravstveni sodelavci, med njimi tudi tisti z dodatnim znanjem iz paliativne medicine in zdravstvene nege. Tim oblikuje načrt nadaljnjega zdravljenja ter postopke oskrbe nenehno prilagaja rasti in razvoju otroka, napredovanju bolezni, slabšanju bolnikovega stanja in pojavljanju novih težav. Vsebina načrta paliativne oskrbe je odvisna od trenutka vključitve bolnika in njegove družine, vrste bolezni ter prepoznanih in izraženih potreb. V pediatriji se potreba po uvedbi paliativnega pristopa pri zdravstvenih delavcih pogosto prepozna prepozno ali pa se sploh ne. S širjenjem znanja in zavedanja koristi sodobne pediatrične paliativne oskrbe za bolnike in njihove svojce poskušamo doseči, da postane paliativni pristop pri bolnih otrocih z neozdravljivo napredujočo boleznijo del vsakodnevne klinične prakse. Ne gre le za eno neodtujljivih pravic najtežje bolnih otrok, gre tudi za delo zdravstvenih delavcev v skladu z etičnim kodeksom, da zdravljenje, ki je bolniku bolj v breme kot v korist, etično ni utemeljeno.
Okužbe sečil uvrščamo med pogostejše bakterijske okužbe pri dojenčkih in otrocih. Najpogostejši povzročitelj je bakterija Escherichia coli. V prispevku opisujemo pomembne razlike med kliničnim ...potekom akutne okužbe sečil pri dojenčkih, majhnih in večjih otrocih ter mladostnikih. Poudarjamo pomen zgodnjega prepoznavanja in zdravljenja predvsem okužbe zgornjih sečil zaradi preprečevanja nastanka brazgotin na ledvicah.
The integration of pediatric palliative care (PPC) should become a standard of care for all children with life-limiting and life-threatening illnesses. There are many barriers and misperceptions in ...pediatrics which hinder the early implementation of PPC. The aim of the study was to design starting points for the establishment of accessible PPC with early involvement of patients in a tertiary-level children’s hospital. An intervention, presentation, and discussion on PPC were offered by the hospital PPC team to all employees in the hospital. A total of 237 participants (physicians 30.4%, nurses 49.4%, psychologists 8.4%, and others) completed a questionnaire before and after the intervention. The personnel’s knowledge, self-assessment of their ability to perform PPC, attitude to participate in PPC, and their awareness and understanding of the need for PPC were evaluated. The results were analyzed using Pandas and SciPy libraries in Python. The knowledge, awareness, and attitude of the physicians, nurses, and other professionals improved significantly after the intervention. However, the self-assessment of their ability to perform PPC did not increase. Previous experience with the death of a patient has proven to be a stimulus for self-initiative in acquiring knowledge in PPC and was linked with a better attitude and higher awareness of the need for PPC.
Conclusions
: More education and practical work tailored to the different professional profiles are needed, with adjustments for specific subspecialist areas, especially where patients could be included in early PPC. Although additional studies are needed, we identified the main directions for the further implementation of PPC in clinical practice in our setting.
What is Known:
•
Every child and adolescent living with a life-limiting or life-threatening condition should receive pediatric palliative care (PPC) to alleviate suffering and enhance their quality of life. There exists a plethora of recognized barriers to the effective implementation of palliative care, specifically PPC. These barriers are often connected to the emotional burden of requesting PPC. Early identification and inclusion of patients is important for improving PPC in hospital settings. Finding strategies to overcome the barriers is crucial for improving the well-being and improving the quality of life of the patients and their families.
•
Early identification is only possible with a high level of knowledge and understanding of PPC among healthcare professionals. In a hospital setting where there are interdisciplinary palliative care teams, the inclusion is still only possible if all staff are capable of recognizing patients in need of PPC and are willing to start the process. Since most healthcare education systems only recently included PC into the healthcare curriculum, most of the professionals currently working in hospitals are only educated to the extent of self-initiative.
What is New:
•
To bridge the existing gap in knowledge, the hospital PC team organized an intervention, presentation, and discussion on PPC, which was offered to all employees in the hospital who are in contact with patients. The personnel’s knowledge, self-assessment of their ability to perform PPC, attitude to participate in PPC, and their awareness and understanding of the need for PPC were evaluated. These four categories have not been tested together before. The knowledge, awareness, and attitude of the physicians, nurses, and other professionals improved significantly after the intervention. All the profiles that work together in a team were evaluated simultaneously for the first time.
•
The self-assessment of their ability to perform PPC did not increase—in fact, it decreased. This was unexpected, as existing literature establishes a link between education and quality of PC. Previous experience with the death of a patient has proven to be a stimulus for self-initiative in acquiring knowledge in PPC and was linked with a better attitude and higher awareness of the need for PPC. We re-established the importance of education and practical work tailored to the different professional profiles, with adjustments for specific subspecialist areas, especially where patients could be included in early PPC. Although additional studies are needed, we identified the main directions for the further implementation of PPC in clinical practice in our setting.
Zagotovitev neoviranega odtoka urina iz ledvičnega meha preko vstavljenega perkutanega nefrostomskega katetra je prehodna rešitev, ki se je najpogosteje poslužujemo pri majhnih otrocih s prirojeno ...zožitvijo sečevoda. Nego izstopišča nefrostomskega katetra izvajajo otrokovi starši doma, potem ko jih nege priuči zdravstveno osebje. Zapleti ob vstavljenem nefrostomskem katetru so lokalno vnetje izstopišča nefrostomskega katetra, izpuljenje ali poškodba nefrostomskega katetra in okužba sečil. Po vstavitvi nefrostomskega katetra ultrazvočno ugotovimo zožitev prej razširjenega ledvičnega meha. Od vzroka motnje odtoka urina in načrta nadaljnjega zdravljenja je odvisno, koliko časa bo otrok potreboval drenažo skozi nefrostomski kateter. Stanje sledimo ultrazvočno. Protokola rutinskih slikovnih preiskav, ki bi jih opravili pri otroku z vstavljenim nefrostomskim katetrom, ni. Pri vsakem otroku se o nadaljnjih preiskavah odločamo individualno.
Background
Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant pain disorder linked to a mutation in the
SCN9A
gene, which encodes voltage-gated sodium channel Nav1.7. Abnormal pain ...sensitivity occurs because of changes in the properties of voltage-gated sodium channels. Different mutations in
SCN9A
and a spectrum of clinical expressions have been described.
Case-Diagnosis/Treatment
Here we describe a 3-year-old child with a rare clinical picture of PEPD. Extremely painful voiding had been present since the child’s birth. The diagnosis was confirmed by the detection of a heterozygous pathogenic mutation in the
SCN9A
gene, c.554G>A (p.Arg185His) inherited paternally. The same mutation was also found in the girl’s father, who has occasionally had some pain in his jaw while yawning since childhood. Significant reduction of the pain was achieved with carbamazepine.
Conclusions
The case is interesting because the same mutation as that found in the girl and her father has been found in patients with small fiber sensory neuropathy. These data do not correlate with the clinical picture of our case and her father, but intra- and interfamily phenotypic diversity in symptoms associated with a gain-of-function variant of Na(V)1.7 are also described and may explain our case.
Lower urinary tract dysfunction, closely related to bowel dysfunction, means functional abnormalities of the bladder and urethra. Different types of lower urinary tract dysfunction are divided ...according to symptoms or according to the cause. Treatment is directed to the cause. Neurogenic lower urinary tract dysfunction can cause irreversible damage to the upper urinary tract and changes in the bladder wall long before the clinical picture manifests as urinary leakage. Therefore, it is essential to diagnose the neurogenic defect with the resulting lower urinary tract dysfunction as soon as possible after birth and to treat the condition proactively. The standard therapy for neurogenic lower urinary tract dysfunction is clean intermittent catheterization in combination with an anticholinergic. Non-neurogenic lower urinary tract dysfunction, resulting in sudden, unexpected urge to void, urgency, leakage of urine, sphincter-detrusor dyssynergy and other forms, is often associated with a deterioration in the quality of life and negatively affects the child‘s self-esteem. The child develops different behavioural patterns to delay urination or stop the urgency. With anamnestic data, a diary and a clinical picture, we can easily define the diagnosis and start as soon as possible with non-pharmacological measures, standard and various types of special urotherapy.
Lower urinary tract dysfunction is clinically relevant because it may cause urinary tract infections, mainly due to accumulation of residual urine, adversely affect renal function, and may cause ...urine incontinence that strongly affects the child’s quality of life. The function of the lower urinary tract is closely associated with that of the bowel, as constipation is commonly associated with bladder dysfunction. Detrusor overactivity, a benign but socially harmful condition, is the leading cause of daytime urinary incontinence in child-hood and needs to be differentiated from more severe conditions such as neurogenic bladder dysfunction or urethral obstruction. Voiding dysfunction, a habitual sphincter con-traction during voiding, is common in children with detrusor overactivity and may be self-limiting but may also result in residual urine and urinary tract infections. It may resemble, in severe cases, the neurogenic bladder dysfunction, most often caused by spinal dysraphism, which is characterized by several subtypes of lower urinary tract dysfunction. This condition very often leads to recurrent urinary tract infections and high intravesical pressures, threatening kidney function. A voiding diary is crucial in the initial evaluation of lower uri-nary tract function in children.
