The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.

Individuals with inborn errors of immunity face challenges in fertility, pregnancy, and genetic disorder transmission. Prenatal genetic counseling is crucial, especially in tribal societies with consanguineous unions. Ten families with confirmed inborn errors of immunity were studied, revealing diverse pregnancy decisions: An architect with autosomal dominant STAT-1 gain of function underwent prenatal diagnosis despite initial plans for preimplantation genetic diagnosis. In a consanguineous family, two children died from leukocyte adhesion deficiency type 1 because the father refused prenatal diagnosis. First cousins opted against terminating the second pregnancy, resulting in two children affected by Bruton disease. Another consanguineous couple, with two children afflicted by ataxia-telangiectasia, chose oocyte donation for their third child, ensuring a healthy birth. Recurrent pregnancy loss was observed in a mother subsequently diagnosed with ZAP70 deficiency. A mother with Wiskott-Aldrich syndrome child opted for in vitro fertilization, leading to a healthy birth post-prenatal diagnosis. A misdiagnosis of anaplastic anemia occurred in a family with multiple instances of Wiskott-Aldrich syndrome. A leukocyte adhesion deficiency type 1 case led to parental dissolution due to the father's refusal to acknowledge the condition. In a non-consanguineous couple, the father's diagnosis of TACI deficiency influenced the mother's decision to discontinue pregnancy post-prenatal diagnosis. Genetic diagnosis alone cannot optimize prenatal care for immune dysregulation disorders. Various factors, including patient education, societal norms, ethics, and economics, impact pregnancy decisions. Clinical immunologists must integrate these elements into guidance strategies to enhance patient outcomes.

Colocolic Intussusception Because of Lipoma in a 44-year-Old Adult.

Lipoma is an uncommon mesenchymal tumor of the colon. They are typically symptom free, the large lipomas within the colon are rare, and can cause obstruction, bleeding, or intussusception. Intussusception is comparatively common in pediatrics and in adults, it could be a rare entity. Pathologic lesions are usually found with a major percentage of malignancy. This is a retrospective evaluation of an adult with an intestinal intussusception who underwent oncosurgical treatment. He was diagnosed with surgically proven intussusception. Using ultrasound and colonoscopy as diagnostic studies, colocolic intussusception was discovered. The patient underwent oncosurgical exploration. Intestinal resection with abrupt anastomosis was the procedure of choice for the patient. The etiology was benign lipoma. Adult intussusception should be evaluated in any patient with subacute abdominal discomfort with bearing in mind the high rate of malignancy and a lower rate of benign tumors. intestinal resection without reducing is highly recommended for colonic intussusceptions.

Comparison of Long-Term Complications of Using Amplatzer Ductal Occluder and Ventricular Septal Defect Occluder for Transcatheter Ventricular Septal Defect Closure.

BACKGROUND: Ventricular Septal Defect (VSD) is the most common type of congenital heart disease and perimembranous type is the commonest form of these defects. Trans-catheter management of these defects is a challenging procedure. OBJECTIVES: The purpose of this study was to compare of Trans-catheter closure of perimembranous ventricular septal defect (PMVSD) using Amplatzer Ductal Occluder (ADO) and VSD occluder and their complications and follow-up. PATIENTS AND METHODS: Between 2013 and April 2019, 69 patients underwent percutaneous closure of PMVSD using ADO (29 patients) and VSD occluder (40 patients). After obtaining the size of VSD from the ventriculogram at least 2 mm larger than the orifice diameter of VSD at the right ventricular side was chosen. The devices were positioned after verification of the proper device position by echocardiography, aortogram and left ventriculography. RESULTS: The mean age of patients were 9.07 ± 7.73 years, mean weight 26.12 ±16.25 kg. The mean defect size of the right ventricular orifice and device sizes were 5.54 ± 1.83 mm 7.72 ± 1.94 mm respectively.Small residual shunts were seen at the completion of the procedure, but they disappeared during follow-up in all but one patient. Two patients had mild AI before the procedure in ADO group that disappeared during the follow-up. The mean follow-up period was 3.3 ± 1.7 years (range 1 to 6 years). Complete atrioventricular block (CAVB) was seen in one patient (VSD occluder) during the procedure that disappeared after the retrieval of the device. Major complication or death was not observed in our study. CONCLUSIONS: Trans-catheter closures of PMVSD with ADO or VSD occluder had similar effects in these patients and are safe and effective treatment associated with excellent success and closure rates. Long-term follow-up in a large number of patients is warranted.