Zespół Frasiera u 17-letniej dziewczynki – opis przypadku

Abstract The authors present a case of Frasier syndrome in a 17-year-old girl with nephrotic syndrome and male pseudohermaphroditism. Due to the existing risk of developing tumors in dysgenetic gonads, the patient was admitted to the clinic for prophylactic gonadectomy. The operation was then postponed as a result of rapid progression to end-stage renal failure, and the patient was placed on hemodialysis. During subsequent laparoscopy, both ovaries and dysgenetic gonads were resected. Histopathological examination revealed the presence of both seminal ducts and epididymis. Early prophylactic resection of dysgenetic gonads, such as was undertaken in this patient, is indicated in children with Frasier syndrome to prevent the development of germ cell tumors.Streszczenie Autorzy prezentują przypadek 17-letniej dziewczynki z zespołem nerczycowym i obojnactwem rzekomym męskim. Z powodu ryzyka nowotworu wywodzącego się z dysgenetycznych gonad dziewczynka została przyjęta do Kliniki Chirurgii Dziecięcej do profilaktycznej gonadektomii. Planowany zabieg został odroczony z powodu pogorszenia funkcji nerek aż do ich schyłkowej niewydolności. Po wdrożeniu leczenia nerkozastępczego i wyrównaniu parametrów gospodarki azotowej wykonano laparoskopową gonadektomię obustronną z usunięciem obu jajowodów. W badaniu histopatologicznym w gonadach stwierdzono struktury najądrza i przewodów nasiennych. Wczesne profilaktyczne usunięcie dysgenetycznych gonad jest wskazane u dzieci z zespołem Frasiera w celu zapobiegania powstania guza wywodzącego się z komórek germinalnych

A Successful Pyloromyotomy In A Child With COVID-19 Infection

Infantile Hypertrophic Pyloric Stenosis (IHPS) is the most common cause of gastric outlet obstruction in children, usually manifesting between 2 and 6 weeks of age by non-bilious vomiting. Although the COVID-19 pandemic has dominated the world since the beginning of 2020 causing the restructuring of healthcare delivery, patients still require high-quality medical care concerning other diseases. We report a 6-week infant with confirmed COVID-19 infection, who developed mild symptoms after a successful pyloromyotomy. Our aim is to encourage other professionals not to delay the necessary treatment in asymptomatic COVID-19 patients, considering the proper use of personal protective equipment, as it may worsen the course of the underlying disease

Is littoral cell angioma of the spleen as rare as previously believed in the pediatric population?

Littoral cell angioma (LCA) is a rare primary splenic vascular tumor, originating from the littoral cellslining the red pulp sinuses of the spleen. There are only a handful of case reports of LCA in children to be foundin the literature. We performed a retrospective analysis of the medical charts of pediatric patients with spleniclesions who were treated between 2005 and 2010 in the Pediatric Surgery Department of the Medical Universityof Bialystok. Surprisingly, LCA accounted for 37.5% of the splenic lesions found in our series. The majority ofLCA tumors are benign, but given their malignant potential, splenectomy and long-term follow-up should bethe gold standard for their management. We strongly support the use of further cross-sectional studies to properlyelucidate the prevalence of littoral cell angioma of the spleen in the pediatric population.Littoral cell angioma (LCA) is a rare primary splenic vascular tumor, originating from the littoral cellslining the red pulp sinuses of the spleen. There are only a handful of case reports of LCA in children to be foundin the literature. We performed a retrospective analysis of the medical charts of pediatric patients with spleniclesions who were treated between 2005 and 2010 in the Pediatric Surgery Department of the Medical Universityof Bialystok. Surprisingly, LCA accounted for 37.5% of the splenic lesions found in our series. The majority ofLCA tumors are benign, but given their malignant potential, splenectomy and long-term follow-up should bethe gold standard for their management. We strongly support the use of further cross-sectional studies to properlyelucidate the prevalence of littoral cell angioma of the spleen in the pediatric population

Circulating proteasome activity following mild head injury in children

PURPOSE: The aim of the study is to characterize changes in circulating proteasome (c-proteasome) activity following mild traumatic brain injury in children. METHODS: Fifty children managed at the Department of Pediatric Surgery because of concussion—mild head injury was randomly included into the study. The children were aged 11 months to 17 years (median = 10.07 + −1.91 years). Plasma proteasome activity was assessed using Suc-Leu-Leu-Val-Tyr-AMC peptide substrate, 2–6 h, 12–16 h, and 2 days after injury. Twenty healthy children admitted for planned inguinal hernia repair served as controls. RESULTS: Statistically significant elevation of plasma c-proteasome activity was noted in children with mild head injury 2–6 h, 12–16 h, and 2 days after the injury. CONCLUSIONS: Authors observed a statistically significant upward trend in the c-proteasome activity between 2–6 and 12–16 h after the mild head injury, consistent with the onset of the symptoms of cerebral concussion and a downward trend in the c-proteasome activity in the plasma of children with mild head injury between 12–16 h and on the second day after the injury, consistent with the resolving of the symptoms of cerebral concussion. Further studies are needed to demonstrate that the proteasome activity could be a prognostic factor, which can help in further diagnostic and therapeutic decisions in patients with head injury

Serum AMH in Physiology and Pathology of Male Gonads

AMH is secreted by immature Sertoli cells (SC) and is responsible for the regression of Müllerian ducts in the male fetus as part of the sexual differentiation process. AMH is also involved in testicular development and function. AMHs are at their lowest levels in the first days after birth but increase after the first week, likely reflecting active SC proliferation. AMH rises rapidly in concentration in boys during the first month, reaching a peak level at about 6 months of age, and then slowly declines during childhood, falling to low levels in puberty. Basal and FSH-stimulated levels of AMH, might become a useful predictive marker of the spermatogenic response to gonadotropic treatment in young patients with hypogonadotropic hypogonadism. After puberty, AMH is released preferentially by the apical pole of the SC towards the lumen of the seminiferous tubules, resulting in higher concentrations in the seminal plasma than in the serum. Defects in AMH production and insensitivity to AMH due to receptor defects result in the persistent Müllerian duct syndrome. A measurable value of AMH in a boy with bilateral cryptorchidism is predictive of undescended testes, while an undetectable value is highly suggestive of anorchia or ovaries, as would be the case in girls with female pseudohermaphroditism and pure gonadal dysgenesis. Lower serum AMH concentrations in otherwise healthy boys with cryptorchidism, who were compared with their age-matched counterparts with palpable testes, have been reported previously. AMH levels are higher in prepubertal patients with varicocele than in controls. This altered serum profile of AMH in boys with varicoceles may indicate an early abnormality in the regulation of the seminiferous epithelial function. Serum AMH is known to be valuable in assessing gonadal function. As compared to testing involving the administration of human chorionic gonadotropin, the measurement of AMH is more sensitive and equally specific. Measurement of AMH is very useful in young children, because serum gonadotropin concentrations in those who are agonadal are nondiagnostic in midchildhood and serum testosterone concentrations may fail to increase with provocative testing in children with abdominal testes

Serum Bisphenol A Level in Boys with Cryptorchidism: A Step to Male Infertility?

Cryptorchidism is the most common congenital birth defect in boys and affects about 2–4% full-term male neonates. Its etiology is multifactorial. Purpose. To evaluate the serum bisphenol A (BPA) levels in boys with cryptorchidism and healthy boys and to assess the risk of environmental exposure to BPA using the authors’ questionnaire. The data were acquired from a study on boys with cryptorchidism (n=98) and a control group (n=57). Prior to surgery, all patients had BPA serum levels evaluated. The size, position, rigidity of the testis, and abnormality of the epididymis of the undescended testis were assessed. Parents also completed a questionnaire on the risks of exposure to BPA in everyday life. Results. The testes in both groups were similar in size. The turgor of the undescended testis in the group of boys with cryptorchidism was decreased. Free serum BPA level in cryptorchid boys and in the control group was not statistically significant (p>0.05). The conjugated serum BPA level in cryptorchid boys and in the control group was statistically significant (p≤0.05). Total serum BPA level in cryptorchid boys and in the control group was statistically significant (p<0.05). Serum total BPA level was related with a positive answer about problems with conception (p<0.02). Conclusion. Our study indicated that high serum BPA was associated with cryptorchidism

Epidemiology of forearm fractures in the population of children and adolescents current data from Podlaskie voivodeship, Poland

Background: Bone fractures in children and adolescents are one of the most common reasons of the orthopedic visits in Poland. Therefore, they are an essential economical and clinical problem in that population. The most frequent is forearm fracture which comprises more than 1/3 of occurring all fractures. In this work we would like to evaluate the epidemiology of these musculoskeletal injuries in group of young people (aged 0 to 18) in Bialystok and entire Podlaskie voivodeship, focusing specifically on the anatomical location of forearm. Methods: The study included population of children and adolescents at the age of 0 to 18 years old from Bialystok city and the entire Podlaskie voivodeship, based on medical records from Paediatric Clinical Hospital in Białystok. This work included period from 1st February 2016 to 31st November 2018. The analysis of the incidence we based on 7 groups of anatomical location of fracture of forearm. Results: The work recorded 1.806 new cases of isolated fractures of the forearm in patients up to the age of 18 years. The frequency of occurrence was 0,76/1000/year in general population and 4,38/1000/year in pre-working age population. Higher frequency of fractures has been observed among boys 63,1% whereas in girls only 36,9%. The average age of a child with forearm fracture was 9,74 y.o. The proportions of fractures depending on seasonality showed that the largest number of fractures occurred in the summer (39,9%) and successively: autumn (26,87%), spring (21,88%), winter (11,37%). The most common anatomical location of forearm fracture was the distal radius metaphysis which constituted 47,34% of all fractures and the rarest was isolated fracture of the ulna shaft (1,33%). Conclusions: Authors usuly focus in their work exclusively on the fractures of the distal epiphysis of the forearm. We have evaluated all the fractures of the forearm. In the the published data, there are no clearly documented reasons or etiopathogenetic conections with bone fragility in the first two decades of life. Further studies are needed to determine the exact causes and possibilities of their elimination or reduction as well as the minimization of consequences

Serum AMH concentration as a marker evaluating gonadal function in boys operated on for unilateral cryptorchidism between 1st and 4th year of life

The aim of this study was to measure the serum AMH (anti-Mullerian hormone) concentrations in a group of boys with or without cryptorchidism, evaluation of karyotypes, testicular position, morphology, and major length of the undescended testes. Fifty boys who were 1–4 years old (median = 2.4 years) with unilateral cryptorchidism were evaluated. All of them underwent orchidopexy in 2010. Prior to the procedure, all of the subjects had undergone karyotyping to exclude chromosomal abnormalities. Fifty healthy boys within the same age range (median = 2.1 years) admitted for planned inguinal hernia repair in 2010, served as controls. Blood samples were collected, while obtaining blood for standard laboratory tests routinely performed before the surgeries. Medians of AMH in boys with cryptorchidism were lower than in boys with inguinal hernia and differed significantly between two groups. Undescended testes were generally found in superficial inguinal pouch (n = 46), in two cases were noted to be in the external ring of the inguinal canal, and in another two instances, in the abdominal cavity. The major lengths of the undescended testes were smaller in comparison to the testes positioned normally (mean of 1 cm vs. a mean of 1.5 cm, respectively). In nine of the cases, the testes had turgor deficit, a drop shape, with epididymides that were small, dysplastic, and separated from the testis. The authors found that AMH was lower in boys with unilateral cryptorchidism (also found to have smaller testis) when compared with the control group

Concentration of UHCL1 in the Serum of Children with Acute Appendicitis, Before and After Surgery, and Its Correlation with CRP and Prealbumin

Ubiquitin-mediated protein degradation plays a crucial role in various cellular processes, including signal transduction, cell differentiation, and stress response. Ubiquitin C-terminal hydrolase 1 (UCHL1) is a unique deubiquitinating enzyme that has both hydrolase and ligase activities. The aim of this study was the determination of UCHL1 concentration in serum of children with appendicitis, before and after the surgery. Material and methods: 42 children with acute appendicitis, who were managed at the Pediatric Surgery Department, between 2013 and 2014, were randomly included into the study (age 9 months up to 14 years, mean age 2.5 + 1 years). There were 15 girls and 27 boys. 18 healthy, age-matched subjects, admitted for planned surgeries served as controls. Exclusion criteria were: severe preexisting infections, immunological or cardiovascular diseases that required long-term medication, and complicated cases of appendicitis with perforation of appendix and/or peritonitis. Results: The UCHL1 concentrations in the blood plasma of patients with acute appendicitis, were highest before the surgery, and were above the range of concentrations measured in controls, the difference was statistically significant. The UCHL1 concentration measured 24 and 72 h after the operation, slowly decreased over time, and still did not reach the normal range, when compared with the concentration measured in controls (p < 0.05). Conclusions: UCHL1 concentration may reflect the metabolic response to acute state inflammation, and the process of gradual ebbing of the inflammation. The method of operation—classic open appendectomy, or laparoscopic appendectomy, does not influence the general trend in UCHL1 concentration in children with appendicitis. There is strong negative correlation between prealbumin and UCHL1 concentrations