Plasma Exchange and N-Acetylcysteine Therapy in a Case of Congenital Thrombotic Thrombocytopenic Purpura Presenting With Acute Renal Failure.

Congenital thrombotic thrombocytopenic purpura (cTTP), which is associated with mutations in the gene for a disintegrin and metalloproteinase with a thrombospondin type 1 motif member 13 (ADAMTS13), is a chronic and lifelong disease. The clinical course is variable. Regularly using ADAMTS13-containing products such as fresh frozen plasma (FFP) for long-term prophylaxis is the most important treatment to prevent thrombotic microangiopathy (TMA) episodes.

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.

: 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.

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

: 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.

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 β-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 β thalassemia due to a heterozygous mutation in exon 3 of the gene.

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.

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.

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.

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.

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.

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.

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 -α/-(α) deletions.