Presence of tubuloreticular inclusions in ultrastructural studies of renal biopsies in children with lupus nephropathy - one-center preliminary study.

Introduction: Juvenile systemic lupus erythematosus (jSLE) is an autoimmune disease that develops as a result of multi-level immune dysregulation, including the interferon pathway. Nephropathy develops at an early stage and eventually affects 90% of patients. A renal biopsy allows one to classify lupus nephritis and determine the proper treatment. Biopsy assessment should be done not only in a light microscope but also in a transmission electron microscope (TEM). Its usage may reveal the presence of intracellular tubuloreticular inclusions (TRIs), considered as a morphological marker of interferon hyperactivity. Material and methods: Renal biopsies of 10 children with jSLE and nephropathy were analyzed in TEM. The location, structure, and size of TRIs were assessed. Demographic data, nephropathy manifestation, non-renal symptoms, and serological activity of lupus were analyzed. Results: All the patients were female with an average onset at 12.7 years of age and met SLE criteria. Nephropathy manifested with proteinuria (n = 10) and hematuria (n = 6). Glomerular filtration rate (GFR) was normal in all patients. In three children with early disease onset, it manifested with hematological disorders. TRIs were revealed in 7 biopsies, with the highest expression in the youngest children, with peripheral cytopenia, membranous glomerulonephritis, and lupus nephritis. Conclusions: Demonstration of TRIs in renal biopsies of children with juvenile systemic lupus may confirm the diagnosis of lupus nephritis and is a sign of involvement of the interferon pathway at the early stage of the disease.

Laparoscopic Uterine Preservation and Vaginal Reconstruction in a 13-Year-Old Girl with Uterus Didelphys, Bilateral Vesicovaginal Fistulas, and Transverse Vaginal Septum.

BACKGROUND: Complex female genital tract malformations account for 1.2% of all female genitourinary malformations. Although exceedingly rare, they can cause severe gynecologic symptoms in young women and lead to fertility problems. CASE: We present the case of a 13-year-old girl with primary amenorrhea referred for cyclic abdominal lower pain and menouria. Detailed diagnostics revealed uterus didelphys, transverse vaginal septum, and bilateral vesicovaginal fistulas. Laparoscopic left hemi-hysterectomy and salpingectomy were performed. The vesicovaginal fistula on the right side was excised, and the proximal vagina was anastomosed with the distal dimple. Since the operation, the patient has been pain-free and menstruating regularly from the right uterus. SUMMARY AND CONCLUSION: Preservation of the uterus should be considered in any case of complex female genital tract malformation and, as successful laparoscopic treatment advocates, a minimally invasive approach is feasible.

Uterine corpus rhabdomyosarcoma in 13-year-old girl.

Embryonal rhabdomyosarcoma (RMS) is the most common malignant tumor of the genitourinary system in children. The most common symptoms in girls include vaginal bleeding, abdominal pain, urinary and/or stool incontinence and hematuria. Treatment includes primary resection of the tumor and adjuvant therapy or neoadjuvant chemotherapy, resection of the tumor and adjuvant therapy.

Pulmonary function, exercise capacity and dyspnea in patients 7 ​years after Nuss surgery.

PURPOSE: Pectus excavatum is a frequent thoracic malformation increasingly treated with minimally invasive methods (MIRPE), which are performed for cardio-respiratory problems and in some centers also for esthetic considerations. Theoretically, MIRPE may increase thoracic elastic recoil, work of breathing and cause emphysema. The aim of the present study was to determine whether teenagers who underwent MIRPE may expect normal thoracic cage development, cardio-respiratory function, exercise capacity and asymptomatic functioning. MATERIAL AND METHODS: Fifty five patients (21.1 â€‹± â€‹3.0 years) who underwent MIRPE between 2000 and 2010 were assessed 6.8 (±2.4) years after surgery. Controls were matched for sex, age and height to the intervention participants. Spirometry, body plethysmography, diffusion capacity and the 6 â€‹min walking test (6MWT) were performed. Anteroposterior (AP) and transverse chest diameters were measured. RESULTS: Participants who underwent MIRPE had normal pulmonary function, and exercise capacity. After adjustment for potential confounders, the intervention group had lower mean BMI [-1.88 â€‹± â€‹0.56 (kg/m2); p â€‹= â€‹0.001] and chest AP diameter [-2.79 â€‹± â€‹0.57 (cm); p â€‹< â€‹0.001], but higher residual volume (RV%) [12.98 â€‹± â€‹5.31 (%); p â€‹= â€‹0.001], RV% total lung capacity (TLC) [5.56 â€‹± â€‹0.92 (%); p â€‹< â€‹0.001], forced expiratory volume in 1 â€‹s/forced vital capacity (FEV1/FVC) [2.64 â€‹± â€‹1.28 (%); p â€‹= â€‹0.039] and 6MWT distance [29.10 â€‹± â€‹13.02 (m); p â€‹= â€‹0.025]. CONCLUSIONS: Young adults who undergo MIRPE may expect normal pulmonary function and exercise capacity. Observed differences in air trapping require further assessment in terms of emphysema development risk.

A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.

A novel CYP11A1: c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed in the first year of life based on clinical picture of acute adrenal crisis with vomiting, dehydration, weight loss, hypotension, and electrolyte disturbances. At the time, hormonal tests revealed primary adrenocortical insufficiency and steroid profiles showed lack of products of steroidogenesis, and since then the patient has been treated with substitution doses of hydrocortisone and fludrocortisone. At the age of 14, considering the absence of puberty symptoms, extended diagnostic tests revealed elevated LH levels (26.5 mIU/mL) with pre-puberty FSH levels (4.9 mIU/mL), low estradiol (28 pmol/L), testosterone (<2.5 ng/mL), and extremely high levels of ACTH (4961 pg/mL). A cytogenetic study revealed a 46 XY karyotype. A molecular examination confirmed the missense mutation and a novel splice-site mutation of CYP11A1 gene. Compound heterozygosity for the CYP11A1 gene with a known pathogenic variant in one allele and a novel splice site mutation in the second allele is most probably responsible for congenital adrenal insufficiency with 46,XY sex reversal. We discuss the necessity of cytogenetic test in the case of early onset of adrenal failure in the absence of steroidogenesis metabolites in the steroid profile.

Multiple variants of obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome - one clinical center case series and the systematic review of 734 cases.

INTRODUCTION: Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare female urogenital tract malformation. STUDY OBJECTIVE: To present 10 patients with OHVIRA treated at the clinical center. To perform a systematic review of OHVIRA case series related to the prevalence of anatomical variants, surgical interventions and endometriosis, and to compare them with our case series. MATERIALS AND METHODS: Medical records from 10 OHVIRA patients treated between 2016 and 2020 were retrospectively reviewed. For the systematic review, PubMed and Web of Science were used to search for relevant studies. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were strictly followed. RESULTS: The most common anatomical variant includes left obstructed hemivagina (50.7%) with isolated hematocolpos or hydrocolpos (55.9%), uterus didelphys (82.9%), and ipsilateral renal agenesis (92.2%). Vaginal septectomy was the most common surgical approach (86.5%). Hemivaginectomy (2.2%), hemihysterectomy (4.2%), or total hysterectomy (0.7%) were also performed in several patients. Some subjects required salpingectomy (3.3%) or oophorectomy (1.8%). 7.5% of patients, mainly infants, did not require surgery due to the spontaneous resolution of hydrocolpos. Endometriosis was fortuitously found in 13.6% of the selected cases who underwent laparoscopy or laparotomy. DISCUSSION: The most common variant of OHVIRA includes isolated hematocolpos and a thick vaginal septum between adjacent hemivaginas. Endometriosis was present in approximately 14% of OHVIRA patients, but this number is probably underestimated. Routine laparoscopy is not required. However, all patients need further monitoring due to a higher risk of endometriosis. Based on the analyzed studies and our case series, vaginal septectomy is a sufficient surgical technique to relieve symptoms and prevent possible complications in most OHVIRA patients.

A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl.

A disorder of sex development (DSD) is defined as a congenital condition in which development of chromosomal, gonadal, or anatomical sex is atypical. Swyer syndrome is an example of 46,XY DSD with a female phenotype. It usually becomes apparent in adolescence with delayed puberty and amenorrhoea. Spontaneous breast development is very rare. A 15-year-old girl was presented due to primary amenorrhoea with breast development compatible with Tanner stage V. Hormonal tests revealed hypergonadotropic hypogonadism with low level of oestradiol. Pelvic ultrasound and magnetic resonance imaging revealed a small uterus, and no ovaries were found. In the right lower abdomen, a structure of unknown origin was visible. The chromosome analysis revealed a 46,XY karyotype. The patient was qualified for a laparoscopic bilateral gonadectomy. Postoperative histopathological examination revealed gonadoblastoma. We underline the need to consider DSD 46,XY in the presence of primary amenorrhoea, even when pubertal development is present. Germ cell tumors have a tendency to grow and metastasize rapidly. Delayed diagnosis may increase the risk of malignant transformation and cause a poor diagnosis.

Early Feminizing Genitoplasty in Girls with Congenital Adrenal Hyperplasia (CAH)-Analysis of Unified Surgical Management.

AIM: To analyze a single-centre experience in feminizing genitoplasty in virilized girls with congenital adrenal hyperplasia (CAH). METHODS: Review of medical records of all 46, XX CAH patients undergoing single stage feminizing genitoplasty between 2003 and 2018 was performed. RESULTS: A total of 31 girls aged from 4 months to 10 years were included in the study. The majority (n = 26/31, 84%) were operated before 2 years of age (median 8 months). External virilization was rated as Prader 3 (n = 7/31), Prader 4 (n = 21/31) and Prader 5 (n = 3/31). The urethrovaginal confluence location was low in 19 and high in 12 girls with a percentage distribution similar in Prader 4 and 5 (p > 0.05) but significantly different in Prader 3 (p = 0.017). The follow-up ranged from 12 months to 15 years. All parents assessed the cosmetic result as satisfactory. Perioperative complications occurred in two patients and included rectal injury (n = 1/31) and prolonged bleeding (n = 1/31). Three patients developed late complications including labial atheromas (n = 2/31) and vaginal stricture requiring surgical dilatation (n = 1/31). Low confluence did not decrease the risk of complications. CONCLUSIONS: Early feminizing genitoplasty in girls with congenital adrenal hyperplasia, irrespective of virilization severity, gives satisfactory cosmetic results and is characterized by low and acceptable surgical risk. Nevertheless, the most important determinant of the effectiveness of such management would be future patients' satisfaction.

Aggressive Angiomyxoma in an 11-Year-Old Boy - Diagnostic and Therapeutic Dilemmas: An Unusual Case Report and Review of the Literature.

Aggressive angiomyxoma (AAM) is a rare tumor with a high risk of local recurrence. Scrotal AAM mimics common pediatric pathologies including hernia or hydrocele. We present 11-year-old boy who underwent macroscopically radical excision of right scrotal AAM. The patient has been already followed up for 29 months utilizing US every 6 months and MRI every 2 years. Residual scrotal mass has been visualized in MRI 3 months after surgery however no further growth was reported. Long term follow up with reliable local imaging is mandatory.

Babies with myelomeningocele in Poland: parents' attitudes on fetal surgery versus termination of pregnancy.

BACKGROUND: Recent surgical advances have resulted in fetal surgery becoming an option for children with myelomeningocele (MMC). However, there is little information about the parents' attitudes towards such therapy. METHODS: Following a lecture on the current status and problems of fetal surgery for MMC, a 12-item questionnaire was administered to 58 parents of children with MMC. Questionnaire topics included knowledge of the disease and treatment options, as well as attitudes and concerns towards fetal surgery or termination of pregnancy. RESULTS: Following the lecture, 14 (out of 58) parents felt that knowledge of the disease would allow for abortion to be an option, while 18 were uncertain. Once informed of potential risks and benefits of fetal surgery, 34 parents had a positive or rather positive attitude towards this procedure. CONCLUSIONS: On the basis of these results, it was concluded that this population is potentially interested in the use of fetal surgery.

Perinatal hospice care in the opinion of nurses and midwives.

OBJECTIVES: Perinatal medicine is a relatively new, dynamically developing branch of medicine. Its main purpose is taking care of a woman in the pre-conception period, pregnancy and delivery, as well as taking care of a newborn baby. The main aim of the study was to assess the state of knowledge and opinion on hospice perinatal care of professionally active nurses and midwives. MATERIAL AND METHODS: An original and anonymous questionnaire containing 30 questions was used for the study. 572 nurses and midwives from the Silesian Voivodeship took part in the study. The obtained data were analyzed. RESULTS: Only 31.6% of respondents defined the level of their knowledge of pregnancy and neonatal care as high. 12.8% of respondents were able to indicate the definition of perinatal care and accurately determine its goals. The women participating in the study were in favor of enclosing the information about not attempting resuscitation (DNAR) in medical record of children with incurable disease diagnosed in fetal life (99.3%). CONCLUSIONS: The study showed deficits in practical and theoretical knowledge of nurses and midwives in the area of hospice perinatal care. Lack of proper preparation is also one of the most frequently mentioned difficulties in taking care of a child and family with poor prognosis.

No Appendix is Too Short-Simultaneous Mitrofanoff Catheterizable Vesicostomy and Malone Antegrade Continence Enema (MACE) for Children with Spina Bifida.

OBJECTIVE: To present the results of simultaneous creation of both Mitrofanoff stoma and Malone antegrade continence stoma (MACE) using simple division of the appendix and a cecal extension method. MATERIALS AND METHODS: Between June 2011 and November 2016, simultaneous Mitrofanoff and MACE was performed in 16 children (12 children-simple division of the appendix, 4 children-appendicovesicostomy and cecal extension of the appendix). Extension of the appendix was achieved by tubularization of the excised cecal flap next to the short appendicular stump. The new extended channel was then wrapped by cecal wall. RESULTS: Follow-up was 40 months (10-74 months). Currently, in all children, both stomas are easily catheterizable. Obstruction of MACE occurred in 5 children (4 with split appendix, 1 with extended appendix); Mitrofanoff stomal stenosis occurred in 1 child. Endoscopic revision and prolonged catheterization of stenotic stomas were effective in all cases. Wound infection and dehiscence was noted in 2 children (both with split appendix). Drainage and intravenous antibiotics were effective. All Mitrofanoffs are continent. In 4 children there is incident minor leakage of the MACE (3 with split appendix and in 1 with extended appendix). CONCLUSION: The split appendix procedure is feasible. Cecal extension of the appendix seems to be a good option when the appendix is too short for a simple split procedure.

Late-Onset Puberty Induction by Transdermal Estrogen in Turner Syndrome Girls-A Longitudinal Study.

OBJECTIVE: Estrogen replacement therapy (ERT) for Turner syndrome (TS) is a widely discussed topic; however, the optimal model of ERT for patients with delayed diagnosis and/or initiation of therapy is still unclear, mainly due to insufficient data. We present the results of a prospective observational single-center study in which the efficacy of late-onset puberty induction by one-regimen transdermal ERT in TS girls was evaluated. METHODS: The analysis encompassed 49 TS girls (63.3% with 45,X) with hypergonadotropic hypogonadism in whom unified transdermal ERT protocol was used for puberty induction (first two months 12.5 µg/24 h, thereafter 25.0 µg/24 h until breakthrough bleeding). Clinical visits for examination and therapy modification took place every 3-6 months. Transabdominal pelvic ultrasound examinations were performed at least twice: at the beginning and at the end of follow-up. RESULTS: The mean (SD) age at ERT induction was 15.1 (1.3) years. The duration of follow-up was 2.4 (1.1) years. Half of all the patients had at least B2 after 0.57 years, B3 after 1.1 years, B4 after 1.97 years, and menarche after 1.82 years from ERT initiation. With earlier initiation of ERT (≤14 years), B2 (p = 0.059) was achieved faster and B4 (p = 0.018) significantly slower than with the later start of ERT. Thirty-four (94.4%) patients had at least stage B3 at menarche. The karyotype, initial weight, and body mass index had no impact on puberty tempo during ERT. The uterine volume increased significantly during ERT in all the study group (p < 0.0001), and in half of the patients, the increase was at least 12.4-fold. It did not correlate with the duration of treatment (p = 0.84) or the dose of estradiol per kilogram (p = 0.78), nor did it depend on karyotype (p = 0.71) or age at ERT initiation (p = 0.28). There were no differences in ΔhSDS during ERT (p = 0.63) between the two age groups (ERT ≤14 and >14 years). CONCLUSION: The presented easy-to-use fixed-dose regimen for late-onset puberty induction allowed for a satisfactory rate of achieving subsequent puberty stages and did not influence the growth potential.

[Diagnostics and treatment of chronic constipation in children--the experience of the department of paediatric surgery]. / Postepowanie diagnostyczno-terapeutyczne u dzieci z przewleklymi zaparciami--doswiadczenia oddzialu chirurgii dzieciecej.

The chronic constipation in children can pose a big problem both in pediatric and surgical practice. The purpose of this work is to present diagnostic and treatment procedures in children with chronic constipation. For over three years 70 children with defecation problems have been referred to the Department of Pediatric Surgery in Katowice (Poland). As a result of diagnostic procedures (anorectal manometry, barium enema and rectal biopsy) Hirschsprung disease was diagnosed in 21 cases and chronic constipation in 49. Children with Hirschsprung disease were treated surgically. Children with diagnosed chronic constipation were treated conservatively (cleansing enemas, oral laxatives, diet) and good results were obtained in 30 patients. 19 children underwent anal divulsion and 16 improved. In 2 cases sphincter myotomy was performed and good result was obtained in both of them. The diagnostics and treatment of chronic constipation in pediatric surgical ward is advantageous, because: Hirschsprung disease can be excluded, cleansing of colon sometimes requires general anesthesia and in selected cases surgical procedure is necessary.

Quadruplication of dystopic kidney in combination with ureteral cyst.

A case of ureteral quadruplication associated with renal dystopia is described. Four ureters drained into ureteric cyst and distal monoureter opened into the bladder. The literature concerned this extremely rare malformation is reviewed.