Current perspectives in hypospadias research: A scoping review of articles published in 2021 (Review).

Hundreds of papers are written about hypospadias every year referring to all aspects of the pathology, being one of the most common congenital malformations. The present study conducted a scoping review of articles published in 2021 to present the main issues and summarize current perspectives and achievements in the field. It searched for the keyword 'hypospadias' in the three most popular databases (PubMed, Scopus and Web of Science). After the analysis of the publications, they were categorized into different domains. The present review was performed respecting the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA ScR) guidelines. A total of 284 articles were included. These were published in 142 different journals. The most accessed was the Journal of Paediatric Urology with 54 articles. The main identified domains were related to surgical techniques, postoperative care, complications, anesthesia, anatomical factors, genetics, environmental factors, endocrinology, associated malformations, questionnaires and recommendations, management, biological materials, animal models, retrospective studies of centers, social media, bibliometrics, small gestational age, neoplasm, or fertility. Promising modifications of existing surgical techniques were presented with improved outcomes for both the proximal and distal types of hypospadias. Relevant anatomical and etiological, and also genetic factors were clarified. Aspects of the peri- and postoperative management referring to the antibiotherapy, analgesia, dressing techniques, and the future use of novel bioengineering agents to prevent, reduce or treat the occurring complications were discussed.

Atypical onset of total colonic Hirschsprung disease in a small female infant: A case report.

RATIONALE: Hirschsprung disease (HD) or colonic aganglionosis is a congenital disorder, which results from the abnormal migration of neuronal cells of the neural crest leading to a disorder of the enteric nervous system consisting in the absence of ganglion cells within the submucosal and myenteric plexus. PATIENT CONCERNS: We report the case of a 7-month-old female infant admitted in our clinic for constipation and failure to thrive. At the age of 6 months, she was examined in our clinic for the same reasons, and we recommended symptomatic treatment without improvements. The clinical examination revealed pallor of the skin and mucosa, distended abdomen, and abdominal tenderness at palpation. DIAGNOSES: The abdominal ultrasound showed abdominal bloating, and the barium enema was normal. The patient's evolution worsened progressively within the following 3 days after admission associating sings of toxic megacolon. INTERVENTIONS: She underwent a surgical intervention with total colectomy and ileostomy, and the final diagnosis confirmed by the histological examination was of total colonic aganglionosis (TCA). OUTCOMES: The evolution immediately after the surgery and the follow-up examination after approximately 3 months pointed out normal weight gain and the laboratory tests were within normal limits. LESSONS: TCA can also manifest in older infants. Barium enemas can guide the diagnosis in most cases of HD. Nevertheless, in patients with TCA, it can be normal. Moreover, it could represent a trigger for toxic megacolon.

Non-Hodgkin lymphoma, diagnostic, and prognostic particularities in children - a series of case reports and a review of the literature (CARE compliant).

RATIONALE: Non-Hodgkin lymphoma remains an unpredictable condition in pediatric patients. PATIENT CONCERNS: Our first case describes an 8-year-old boy with a history of iron deficiency anemia, admitted in our clinic for recurrent abdominal pain, weight loss, loss of appetite, diarrheic stools, and fever. The second case also describes an 8-year-old boy admitted for abdominal pain and vomiting. The 3rd case refers to a 4 years and 10 months old boy admitted in our clinic with abdominal pain and loss of appetite, who was initially admitted in the Pediatrics Surgery Clinic with the suspicion of appendicitis. Our 4th patient was a 5-year-old boy admitted in our clinic for abdominal pain and intermittent diarrheic stools. DIAGNOSES: In the first case, the laboratory tests showed anemia, thrombocytosis, elevated inflammatory biomarkers, a low level of iron, and hypoproteinemia. The abdominal ultrasound and CT exam revealed an abdominal mass, and the histopathological exam established the diagnosis of diffuse large B-cell lymphoma of the bowel. In the second case, the laboratory tests pointed out anemia, elevated ESR and lactate dehydrogenase level, while both abdominal ultrasound and CT exams showed an abdominal mass. The histopathological exam confirmed the diagnosis of Burkitt lymphoma. Regarding our 3rd case, the laboratory findings revealed leukocytosis, anemia, thrombocytosis, increased inflammatory biomarkers, elevated LDH, and a low level of iron. The abdominal ultrasound and the CT scan revealed an abdominal mass which, according to the histopathological exam, was a Burkitt lymphoma. Due to the cranial CT findings the patient was diagnosed with IV stage Burkitt lymphoma with central nervous system metastases. In our 4th patients we found leukocytosis, anemia, mildly increased inflammatory biomarkers, a high level of LDH, hypoproteinemia, and a low level of serum Ir. Both ultrasound and abdominal CT exams were negative, but the exploratory laparotomy identified an abdominal mass, and according to the histopathological exam the patient was diagnosed with Burkitt lymphoma. INTERVENTIONS: All the patients followed chemotherapy (B-NHL BFM 04 protocol) and supportive treatment. OUTCOMES: The first patient died approximately 4 months after the completion of chemotherapy due to tumor relapse, the second patient died after the first cure of chemotherapy and the fourth patient died at approximately 2 years after the diagnosis. The third patient is recurrence-free after 2 years. LESSONS: Despite the advances in the management, NHL remains a fatal condition in pediatrics.

Kite versus Ponseti Method in the Treatment of 235 Feet With Idiopathic Clubfoot: Results of a Single Romanian Medical Center.

Congenital idiopathic clubfoot (CC) represents the fifth common most congenital malformation which may be treated conservatively or by surgery. In this article, we present the results obtained in our clinic after conservative therapy performed with 2 methods.A total of 235 consecutive feet (161 patients) were conservatively treated using Kite (n = 129) and Ponseti method (n = 106). The Dimeglio score was determined before and at 6 months after treatment to compare the 2 methods. All of the patients were treated in their first week of life.CC was more frequently diagnosed in males (n = 93; 57.76%), bilaterality being seen in 45.96% of the patients (n = 74). Although before therapy the Dimeglio score was similar in both groups (P = 0.85), it was significantly improved in patients treated by Ponseti method (P = 0.005). Duration of therapy was also longer in patients from Kite versus Ponseti group (20 vs 11 weeks). Failure of orthopedic treatment was more frequent in Kite group (30.32% vs 8.49% of the patients) and the relapses rate at 6 months was also higher (35.65% vs 11.32%).The conservative method used to treat the CC should be adapted on the patient's age and Ponseti method seems to be the most effective type of treatment used for patients treated in their first week of life. Dimeglio score can be successfully used for evaluation of these children. This is the eighth published study that compare the efficacy of Kite versus Ponseti method.

Antenatally diagnosed congenital pyloric duplication associated with intraluminal pyloric cyst--rare entity case report and review of the literature.

Duplication of the digestive tract is a very rare malformation in children whereas the congenital pyloric duplication is extremely rare, few cases being described in the literature. We present the case of a male infant, aged seven days, who was diagnosed at 17 weeks of gestation with a cystic mass in the abdomen and who presented vomiting in the sixth day of life. Ultrasound and CT diagnosed a pyloric duplication cyst. The malformation was visualized intraoperatively and removed successfully without incidents. The infant's postoperative evolution was excellent, with an upward weight curve without a dumping syndrome. Finally, we present a review of the published cases of congenital pyloric duplications in the world, this one being the fifth one reported of the prenatally diagnosed cases.

Surgical reconstruction of the genitalia in a 3-year-old infant with a 46XX karyotype: case report.

UNLABELLED: A 3-year-old patient was hospitalized with ambiguous genitalia (clitoromegaly, labioscrotal fusion, absence of vaginal introitus), classified as stage III/IV according to Prader's virilization scale. Our patient, with a 46XX karyotype, was previously diagnosed with congenital adrenal hyperplasia caused by a deficiency of the adrenal enzyme 21-hydroxylase; corticosteroids and salt replacement therapy have been used. At the present admission, the surgical treatment consisted on clitoroplasty (with the removal of erectile tissue), reconstruction of the labia minor, creation of a neovulva and vaginoplasty. It was a single-step operation to restore the anatomical female structures. She had an uneventful postoperative period and the wound healed well with good cosmetic results. We present the details about the surgical procedure and a short review of data from literature. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.

Congenital umbilical arterio-venous malformation: a word of caution.

We report on an 18-month old girl who presented in good clinical shape with a pulsatile tumour in the umbilical area which had a shape and localization similar to that of an umbilical bowel hernia. The Doppler ultrasound of the umbilical tumour revealed a large arterio-venous vascular malformation with a haemodynamically significant blood shunting. Furthermore, the inferior caval vein and the hepatic veins were dilated. Computed tomography angiography revealed permeable umbilical veins and arteries communicating within a large dilated arterio-venous fistula. The growing tumour was excised without any perioperative complications. Further postoperative recovery was uneventful and the baby was discharged 10 days after surgery. We advocate careful antenatal ultrasound evaluation of these vascular malformations. Early surgical removal in newborns is vital in order to avoid severe complications.

Congenital clubfoot in children after walking age: management and evaluation of 41 feet with the dimeglio score.

INTRODUCTION: Congenital Clubfoot (CC) is one of the most frequent orthopedic lesions in patients younger than 10-15 years. The surgical correction is more difficult in children over 1.5 years, compared to newborns, due to advanced osteoarticular development and higher rigidity of the foot. The aim of this study was to report the results of our experience regarding the combined orthopedic-surgical treatment of CC and the follow-up prognostic value of Dimeglio score in children aged between 1.5 to 12 years. MATERIAL AND METHODS: From June 2009 and May 2012, 31 consecutive patients with CC, aged between 1.5 to 12 years, underwent surgical treatment. To assess the results, pre-operative and post-operative Dimeglio scores, at 6 months after surgery, were compared in each of the cases. An adapted Ponseti-Mitchelle orthosis-bar was used for aftercare. RESULTS: The mean age of patients enrolled in this study was 4.32±2.04 years old. From the 31 patients, 10 had bilateral deformity; surgical intervention was performed for a total of 41 feet. Independently by the age of patients, between pre-operative and post-operative evaluation, the Dimeglio score regressed from a mean of 11.70±7.43 (ranged between 4 and 18) to 3.80±0.96 (ranged between 0 and 12). Unfavorable outcome was observed in 5 feet; the success correction rate was 85.37%. CONCLUSION: This study reveals that CC can also be treated in older children by using a proper orthopedic, surgical and post-operative management. The Dimeglio score is useful, easy to use and relevant also in children over 1.5 years.