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New Insights and Perspectives in Congenital Diarrheal Disorders

Purpose of Review We highlight new entities of congenital diarrheal disorders (CDDs) and progresses in understanding of functionally related genes, opening new diagnostic and therapeutic perspectives. Recent Findings The more significant advances have been made in field of pathogenesis, encouraging a better under- standing not only of these rare diseases but also of more com- mon pathogenetic mechanisms. Summary CDDs represent an evolving group of rare chronic enteropathies with a typical onset early in the life. Usually, severe chronic diarrhea is the main clinical manifestation, but in other cases, diarrhea is only a component of a more complex systemic disease. The number of conditions has gradually increased, and many new genes have been indentified and functionally related to CDDs, opening new diagnostic and therapeutic perspectives. Advances in molecu- lar analysis procedures havemodified the diagnostic approach in CDDs, leading to a reduction in invasive and expensive procedures. Keywords Chronic diarrhe

Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned

The natural history of Fanconi anemia remains hard to establish because of its rarity and its heterogeneous clinical presentation; since 1994, the Italian Fanconi Anemia Registry has collected clinical, epidemiological and genetic data of Italian Fanconi Anemia patients. This registry includes 180 patients with a confirmed diagnosis of Fanconi anemia who have either been enrolled prospectively, at diagnosis, or later on. After enrollment, follow-up data were periodically collected to assess the clinical course, possible complications and long-term survival; the median follow up was 15.6 years. The main goal of the study was to describe the natural history of Fanconi anemia, focusing on the following variables: family history, disease presentation, development of hematological manifestations, development of malignancies, occurrence of hematopoietic stem cell transplantation and survival. Typical morphological and/or hematological abnormalities and/or growth retardation were the most common manifestations at diagnosis; the majority of patients (77%) exhibited hematological abnormalities at the initial presentation, and almost all (96%) eventually developed hematological manifestations. More than half of the patients (57%) underwent a bone-marrow transplant. The occurrence of cancer was quite rare at diagnosis, whereas the cumulative incidence of malignancies at 10, 20 and 30 years was 5%, 8% and 22%, respectively, for hematological cancers and 1%, 15% and 32%, respectively, for solid tumors. Overall survival at 10, 20 and 30 years were 88%, 56% and 37%, respectively; the main causes of death were cancer, complications of the hematological presentation and complications of transplantation. These data clearly confirm the detrimental outcome of Fanconi anemia, with no major improvement in the past decades

Open Surgery for Sportsman's Hernia a Retrospective Study

Sportsman's hernia is a painful syndrome in the inguinal area occurring in patients who play sports at an amatorial or professional level. Pain arises during sport, and sometimes persists after activity, representing an obstacle to sport resumption. A laparoscopic/endoscopic approach is proposed by many authors for treatment of the inguinal wall defect. Aim of this study is to assess the open technique in terms of safety and effectiveness, in order to obtain the benefit of an open treatment in an outpatient management. From October 2017 to July 2019, 34 patients underwent surgery for groin pain syndrome. All cases exhibited a bulging of the inguinal posterior wall. 14 patients were treated with Lichtenstein technique with transversalis fascia plication and placement of a polypropylene mesh fixed with fibrin glue. In 20 cases, a polypropylene mesh was placed in the preperitoneal space. The procedure was performed in day surgery facilities. Early or late postoperative complications did not occur in both groups. All patients returned to sport, in 32 cases with complete pain relief, whereas 2 patients experienced mild residual pain. The average value of return to sport was 34.11 ± 8.44 days. The average value of return to play was 53.82 ± 11.69 days. With regard to postoperative pain, no substantial differences between the two techniques were detected, and good results in terms of the resumption of sport were ensured in both groups. Surgical treatment for sportsman's hernia should be considered only after the failure of conservative treatment. The open technique is safe and allows a rapid postoperative recovery

incidence and factors influencing retinal displacement in eyes treated for rhegmatogenous retinal detachment with vitrectomy and gas or silicone oil

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