Esophageal Carcinoma in Children: Report of 2 Cases and a Review of the Literature.

Esophageal carcinoma in children and adolescents is extremely rare. Here, we report 2 cases of pediatric esophageal carcinoma presenting with progressive dysphagia. There was not any underlying specific risk factor in our cases. The histopathological subtypes were adenocarcinoma in one and squamous cell carcinoma in another case. Response to combined modality treatment was good in the case of adenocarcinoma, while the patient with squamous cell carcinoma was unresponsive to treatment and died of the progressive disease. We reviewed the pediatric cases of esophageal carcinoma reported in the literature. Progressive dysphagia was observed in 89% of these cases. One third of pediatric cases had underlying risk factors. Squamous cell carcinoma is a more common type of childhood esophageal carcinoma. In contrast to adults, pediatric esophageal squamous cell carcinoma may distribute throughout the esophagus. Esophageal adenocarcinoma was seen in the distal esophagus in pediatric cases. Metastatic disease was found in 48% of pediatric patients at presentation, and the prognosis is poor. Collaborative efforts are needed for success in the treatment of esophageal carcinoma.

Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country.

Beta thalassemia is one of the monogenic disorders characterized by decreased production of ß-globin chains and various types of mutations have been reported to cause thalassemia phenotype. On the other hand, rare mutations also affect and diversify the disease spectrum. Herein, we present an anemic patient from Turkey diagnosed with dominant ß thalassemia due to a heterozygous mutation in exon 3 of the HBB gene.

Which Position for Novice Surgeons? Effect of Supine and Prone Positions on Percutaneous Nephrolithotomy Learning Curve.

Background and Objectives: Percutaneous nephrolithotomy (PCNL) is a current treatment method with high success rates and low complication rates in treating large kidney stones. It can be conducted in different positions, especially supine and prone positions. PCNL in the supine position is becoming increasingly common due to its advantages, such as simultaneous retrograde intervention and better anesthesia management. This study aimed to assess how the choice of position impacts the PCNL learning curve. Materials and Methods: The results of the first 50 consecutive PCNL cases performed by two separate chief residents as primary surgeons in supine and prone positions in a reference center for stone treatment between August 2021 and January 2023 were evaluated. The two groups' demographic and clinical data, stone-free rates, operation times, and fluoroscopy times were compared. Results: While the mean operation time was 94.6 ± 9.8 min in the supine PCNL group, it was 129.9 ± 20.3 min in the prone PCNL group (p < 0.001). Median fluoroscopy times in the supine PCNL and prone PCNL groups were 31 (10-89) seconds and 48 (23-156) seconds, respectively (p = 0.001). During the operation, the plateau was reached after the 10th case in the supine PCNL group, while it was reached after the 40th case in the prone PCNL group. Conclusions: For surgeons who are novices in performing PCNL, supine PCNL may offer both better results and a faster learning curve. Prospective and randomized studies can provide more robust conclusions on this subject.

A Comparison of the First 60 Enucleation Cases Using a Thulium Fiber Laser without a Mentor to a Transurethral Resection of the Prostate (TURP) and Open Prostatectomy, and the Learning Curve.

Background and Objectives: In the surgical treatment of benign prostatic hyperplasia (BPH), laser enucleation of the prostate is recommended as an alternative to transurethral resection (TURP) and open prostatectomy (OP). The thulium fiber laser, with its superficial penetration depth, can offer a rapid learning process by causing less heat injury and capsule damage. This study compares the first 60 cases of an endourologist performing thulium fiber enucleation of the prostate (ThuFLEP) without a mentor to the results of OP and TURP performed by experienced surgeons. It also identifies the case number at which the operation time for ThuFLEP starts to plateau. Materials and Methods: Between 1 November 2021 and 1 November 2023, the initial 60 ThuFLEP cases of an endourologist with no prior enucleation experience were compared with TURP and OP operations performed by experienced surgeons. Since the first 60 ThuFLEP cases involved 80-120 cc prostates, TURP and OP operations within this size range performed during the same period were included in the study. The groups were assessed for age, preoperative and postoperative prostate volume, PSA levels, the IPSS, the IPSS Quality of Life (QoL), and maximum urinary flow (Qmax). The 60 consecutive ThuFLEP cases were divided into three groups of 20 (Groups 1, 2, and 3) and compared for operation time, IPSS, and Qmax. Results: The operation time for TURP was shorter than for ThuFLEP and OP (p < 0.001). There was no significant difference between ThuFLEP and OP in postoperative Qmax and IPSS, while TURP had lower values than the other two methods. For ThuFLEP, the operation time was longer in the first 20 cases but plateaued in groups 2 and 3 (p < 0.001). Postoperative Qmax and IPSS values showed no significant differences among the three ThuFLEP groups (p > 0.05). Conclusions: For large prostates, ThuFLEP provides better postoperative results than TURP and offers shorter catheterization and hospital stay times than OP. Its short learning curve makes it a preferable method for treating BPH compared to other laser techniques.

External validation of a prostate cancer nomogram on magnetic resonance/transrectal ultrasound fusion biopsy in men with prior negative systematic biopsy.

OBJECTIVE: To observe how the nomogram, which was created by Truong et al, works in an independent patient group by performing external validation. PATIENTS AND METHODS: One hundred and eighty-one patients who had at least one prior negative 12-core standard systematic biopsy and lesions with PI-RADS scores of 3 or higher that were detected as a result of mpMRI were included in the study. Targeted biopsy with 12-core standard systematic biopsy was performed on all patients. Clinical and pathological features of the patients were recorded. The discrimination, calibration and decision curve analysis were performed to externally validate the nomogram. RESULTS: A total of 181 patients with previous negative 12-core systematic biopsies were analysed. One hundred and thirty-four patients (74%) had benign pathology. Radiological volume and PI-RADS scores of 4 and 5 were found as independent predictors of benign pathology. The area under the curve (CI 95%) was found to be 0.80 (0.73-0.87), indicating good discrimination. The median residual was calculated as -0.0873, the intercept as -0.0690, the slope as 0.8927 and r2 as 0.2586, indicating good calibration. The standardised net benefit of follow-up decisions was found to be 0.54 and 0.36 at the probability threshold of 0.7 and 0.8, respectively. CONCLUSION: The original model showed good discrimination and calibration with our data. Defining a high probability threshold for clinical use would be appropriate for centres with high benign biopsy rates similar to our centre.

Central nervous system lesions in Fanconi anemia: Experience from a research center for Fanconi anemia patients.

BACKGROUND: Brain atrophy, abnormal pituitary morphology, corpus callosum, and posterior fossa abnormalities have been described in patients with Fanconi anemia (FA). We aimed to provide an overview of cranial neuroimaging findings and to evaluate the clinical implications in FA patients. PROCEDURE: Cranial magnetic resonance imaging (MRI) studies of 34 patients with FA were retrospectively evaluated, and patients' clinical data were correlated with the imaging findings. RESULTS: The patients' median age was 17.6 (range, 3.9-28) years. At least one pathological brain imaging finding was demonstrated in 22 (65%) patients. These findings included corpus callosum abnormalities and other related supratentorial malformations in nine, pituitary abnormalities in eight, craniovertebral junction and posterior fossa abnormalities in eight, vascular lesions in six, and intracerebral calcifications in two patients. Among the 22 patients who had abnormal cranial MRI findings, six (27%) had mild to moderate intellectual disability (ID), three (14%) had epilepsy, one (5%) had mild hearing loss, and one patient (5%) had hemiplegia. Among these 34 patients, 14 (41%) were transfusion dependent. There was no significant difference between patients with congenital and acquired neuroimaging findings and patients with normal neuroimaging regarding transfusion dependency. CONCLUSIONS: Acquired abnormalities in brain tissue, such as white matter intensity changes, white matter T2 hyperintense discrete foci, or infarcts along with congenital abnormalities, were identified in this study. Variable abnormal brain imaging findings in FA patients, although some were not associated with clinical neurological manifestations, suggest that brain imaging could be part of screening in FA.

Hb H Disease Diagnosed During Adolescent Pregnancy.

Hb H disease is a moderate to severe form of α-thalassemia (α-thal). Patients with Hb H disease may become symptomatic, especially during infections and pregnancy, and may require transfusions. Herein, we present a 16-year-old female with Hb H disease who was initially diagnosed during adolescent pregnancy and was found to carry the -α3.7/-(α)20.5 deletions. The relatively mild presentation of this case highlights the milder phenotypic consequences of deletional α mutations. The case describes the screening and management of pregnancy with Hb H disease. Additionally, this case demonstrates that screening of some undiagnosed inherited blood disorders is important during pregnancy.

Deficiency of Adenosine Deaminase 2

Adenosine deaminase 2 (ADA2) deficiency is an autosomal recessively inherited autoinflammatory disorder caused by loss-of-function mutations in the ADA2 gene. Although the pathogenesis involves the triggering of a proinflammatory cascade due to increased production of inflammatory cytokines such as tumor necrosis factor (TNF)-α and dysregulation of neutrophil extracellular trap formation resulting from an excess accumulation of extracellular adenosine, the pathogenetic mechanism still needs further clarification due to the broad clinical spectrum. In addition to the initially described vasculitis-related symptoms, hematological, immunological, and autoinflammatory symptoms are now well recognized. The diagnosis is made by demonstration of pathogenic variants of ADA2 with biallelic loss of function and identification of low plasma ADA2 catalytic activity. Currently, TNF-α inhibitors are the treatment of choice for controlling vasculitis manifestations and preventing strokes. However, in patients presenting with severe hematologic findings, TNF-α inhibitors are not the treatment of choice and hematopoietic stem cell transplantation has been shown to be successful in selected cases. Recombinant ADA2 protein and gene therapy are promising treatment modalities for the future. In conclusion, ADA2 deficiency has a broad phenotype and should be considered in the differential diagnosis of different clinical situations. In this review, we summarize the disease manifestations of ADA2 deficiency and available treatment options.

Could pain change position choice? Comparison of pain level, analgesic requirement and hospitalization time in supine and prone percutaneous nephrolithotomy.

PURPOSE: Investigation of how position affects postoperative pain levels and hospitalization in patients undergoing percutaneous nephrolithotomy (PNL) surgery. METHODS: Between August 2019 and December 2022, a total of 156 patients who underwent prone (pPNL) and supine percutaneous nephrolithotomy (sPNL) due to kidney stones were included in the study. Demographic data, preoperative CT scans, laboratory results, transfusion rates, operation durations, complication rates, stone-free rates, analgesic use, nephrostomy removal time, hospitalization duration, fluoroscopy time, hemoglobin decrease and postoperative Visual Analog Scale (VAS) scores were evaluated for all patients. By comparing these data between the sPNL and pPNL groups, the effect of position selection in PNL on pain control, analgesic requirement, and hospitalization duration was examined. RESULTS: In the comparison of the pPNL and sPNL groups, there was a significant difference between the two groups in body mass index, hounsfield unit, complication rate, analgesic rate, nephrostomy remove time, hospitalization time, operation time, fluoroscopy time and VAS score (p = 0.025, p < 0.001, p = 0.012, p = 0.012, p < 0.001, p < 0.001, p < 0.001, p < 0.001 and p < 0.001, respectively). CONCLUSION: The shorter operation and hospitalization time in the sPNL group could be attributed to performing surgeries in a physiological position. Additionally, sPNL seems advantageous in terms of patients' pain levels, hospitalization time and VAS scores. One reason for this could be the different areas of access in sPNL and pPNL, which may correspond to different dermatome regions. Considering the low level of pain and reduced analgesic usage, sPNL appears to be advantageous.

Pulmonary involvement in children with Langerhans cell histiocytosis.

BACKGROUND: Pulmonary Langerhans cell histiocytosis (pLCH) is a rare disease, mostly a component of multisystemic LCH. We aimed to investigate the clinical features and treatment results in children with pLCH. METHODS: We retrospectively reviewed the clinical, radiological, and treatment data of 37 patients with pLCH, diagnosed from 1974 to 2022. RESULTS: 10% (n=37) of 367 patients with LCH had lung involvement. The median age was 1.8 years (range: 0.4 & 17.7) with a male-to-female ratio of 2.3. At admission 29.7% (n=11) presented with respiratory symptoms. Imaging showed a spectrum from nodular opacities to multiple cysts. All but one patient had multisystem disease. Twenty-nine received vinblastine-containing therapy. Ten-year event-free (EFS) and overall survival (OS) rates were 47.8% and 63.3%, respectively. In children younger and older than two years of age, the 10-year EFS was 53.3% vs. 40.2% and the 10-year OS was 58.7% vs. 68.8%, respectively. In children with and without risk organ involvement, 10-year EFS was 51.9% vs. 46.3% and 10-year OS was 51.9% vs. 73.7%. CONCLUSIONS: Lung and multisystem involvement are significant concerns in LCH, highlighting the need for careful management to reduce morbidity and mortality.

A rare case of Klippel-Trenaunay syndrome presenting with chronic myeloid leukemia.

BACKGROUND: Klippel-Trenaunay syndrome (KTS) is an overgrowth syndrome associated with capillary/venous/ lymphatic malformations with limb hypertrophy and cancer risk. Various cancers, mostly Wilms tumor, have been reported in patients with KTS, but not leukemia. Chronic myeloid leukemia (CML) is also a rare disease in children, where there is no known disease or syndrome to predispose to CML. CASE: We report a case of CML incidentally diagnosed in a child with KTS when he was bleeding from surgery of the left groin for vascular malformation. CONCLUSIONS: This case reflects the variety of cancer types that may accompany KTS and provides information about CML prognosis in such patients.

Small Cell Carcinoma of Ovary, Hypercalcemic Type: A Rare Case Report.

BACKGROUND: Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare neoplasm that occurs mostly in women younger than 40 years of age. The unknown histogenesis makes the diagnosis of SCCOHT difficult. SCCOHT was recently shown to be associated with SMARCA4 gene mutation. Serum calcium levels can be used as a marker of treatment response and relapse in SCCOHT. CASE REPORT: Here we report on a 16-year-old girl who presented with pelvic mass and hypercalcemia. SCCOHT was diagnosed histopathologically. However, loss of neither BRG1 nor INI1 expression was detected. SUMMARY AND CONCLUSION: The diagnosis of SCCOHT should be among the differential diagnoses in adolescents presenting with pelvic mass and hypercalcemia. We would like to share our experience with this rare case, discuss recent management, and emphasize the importance of a multidisciplinary approach. Although it is known that almost all cases have a loss of BRG1 expression and a small group exhibit loss of INI1, our patient indicates that there could be exceptional cases with hitherto undescribed genetic abnormalities.