LIMB BODY WALL COMPLEX IN TWO HETEROZYGOTIC TWINS: A CASE REPORT

Introdution. Limb-Body Wall Complex (LBWC) is a congenital defect which includes at least two of the following characteristics: abdominal and/or thoracic body wall defects, exencephaly or encephalocoele with or without craniofacial defects (56%) and spinal defects associated with marked vertebral or sacral defects (95%). Case Report. We present a case report of an infant with LBWC, borned by diamniotic twin pregnancy. A prenatal ultrasound reported an healthy fetus and a fetus with multiple malformations. At birth we found a big abdominal wall defect, absence of scrotal sac and testicles, asymmetric chest and no major deformities in craniofacial region. At 2 hours of life, we removed the amniotic sac, we put the stomach and the spleen in the abdominal cavity, which is virtual, and positioned a spring-loaded silo. At 15th day of life we had complete reduction of the intestinal loops and liver and we closed the wall defect with a prosthesis and a cryopreserved skin. The general conditions of the patient, very severe since birth, became progressively worse and he died in the 21st day of life. Discussion. Once the diagnosis is done the physician should offer the parents a therapeutic abortion, and above all, in case they want to carry the pregnancy to term, we need to prepare them to the severity of the malformation and the high probability of death

Decline of gastric cancer mortality in common variable immunodeficiency in the years 2018-2022

Introduction: In patients with Common Variable Immunodeficiency, malignancy has been reported as the leading cause of death in adults, with a high risk of B-cell lymphomas and gastric cancer.Methods: We conducted a five-year prospective study aiming to update the incidence and mortality of gastric cancer and the incidence of gastric precancerous lesions in 512 CVID patients who underwent a total of 400 upper gastrointestinal endoscopies.Results: In the pre-pandemic period, 0.58 endoscopies were performed per patient/year and in the COVID-19 period, 0.39 endoscopies were performed per patient/year. Histology revealed areas with precancerous lesions in about a third of patients. Patients who had more than one gastroscopy during the study period were more likely to have precancerous lesions. Two patients received a diagnosis of gastric cancer in the absence of Helicobacter pylori infection. The overall prevalence of Helicobacter pylori infection in biopsy specimens was 19.8% and related only to active gastritis. Among patients who had repeated gastroscopies, about 20% progressed to precancerous lesions, mostly independent of Helicobacter pylori.Discussion: While gastric cancer accounted for one in five deaths from CVID in our previous survey, no gastric cancer deaths were recorded in the past five years, likely consistent with the decline in stomach cancer mortality observed in the general population. However, during the COVID-19 pandemic, cancer screening has been delayed. Whether such a delay or true decline could be the reason for the lack of gastric cancer detection seen in CVID may become clear in the coming years. Due to the high incidence of precancerous lesions, we cannot rely on observed and predicted trends in gastric cancer mortality and strongly recommend tailored surveillance programs

Struggling with COVID-19 in Adult Inborn Errors of Immunity Patients: A Case Series of Combination Therapy and Multiple Lines of Therapy for Selected Patients

Background: The SARS-CoV-2 infection is now a part of the everyday lives of immunocompromised patients, but the choice of treatment and the time of viral clearance can often be complex, exposing patients to possible complications. The role of the available antiviral and monoclonal therapies is a matter of debate, as are their effectiveness and potential related adverse effects. To date, in the literature, the amount of data on the use of combination therapies and on the multiple lines of anti-SARS-CoV-2 therapy available to the general population and especially to inborn error of immunity (IEI) patients is small. Methods: Here, we report a case series of five adult IEI patients managed as inpatients at three Italian IEI referral centers (Rome, Treviso, and Cagliari) treated with combination therapy or multiple therapeutic lines for SARS-CoV-2 infection, such as monoclonal antibodies (mAbs), antivirals, convalescent plasma (CP), mAbs plus antiviral, and CP combined with antiviral. Results: This study may support the use of combination therapy against SARS-CoV-2 in complicated IEI patients with predominant antibody deficiency and impaired vaccine response

FEMALE PSEUDOHERMAPHRODITISM

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Safety of mRNA COVID-19 Vaccines in Patients with Inborn Errors of Immunity: an Italian Multicentric Study

Purpose: Little is known about vaccine safety in inborn errors of immunity (IEI) patients during the current vaccination campaign for COVID-19. To better investigate the reactogenicity and adverse event profile after two, three, and four doses of mRNA vaccines, we conducted an observational, multicentric study on 342 PID patients from four Italian Referral Centres. Methods: We conducted a survey on self-reported adverse reactions in IEI patients who received mRNA vaccine by administering a questionnaire after each dose. Results: Over the whole study period, none of the patients needed hospitalization or had hypersensitivity reactions, including anaphylaxis and delayed injection site reaction. After two vaccination doses, 35.4% of patients showed only local reactogenicity-related symptoms (RrS), 44.4% reported both systemic and local RrS, and 5% reported only systemic RrS. In more than 60% of cases, local or systemic RrS were mild. After the first and second booster doses, patients showed fewer adverse events (AEs) than after the first vaccination course. Patients aged 50 years and older reported adverse events and RrS less frequently. Among AEs requiring treatment, one common variable immune deficiency patient affected by T cell large granular lymphocytic leukemia developed neutropenia and one patient had Bell’s paralysis perhaps during herpes zoster reactivation. Conclusion: Although our follow-up period is relatively short, the safety data we reported are reassuring. This data would help to contrast the vaccine hesitancy often manifested by patients with IEI and to better inform their healthcare providers

FEMALE PSEUDOHERMAPHRODITISM

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DISORDER OF SEX DEVELOPMENT: DESCRIPTION OF 2 CASES OF MALE PSEUDOHERMAPHRODITISM

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DISORDER OF SEX DEVELOPMENT: DESCRIPTION OF 2 CASES OF MALE PSEUDOHERMAPHRODITISM

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INTUSSUSCEPTION IN A CHILD WITH SPORADIC BURKITT LYMPHOMA

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LAPAROSCOPIC APPENDECTOMY AS A CARE MODEL OF "FAST TRACK SURGERY"

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