Autoimmune enteropathy is an extremely rare condition characterized by an abnormal intestinal immune response which typically manifests within the first 6 months of life as severe, intractable diarrhea that does not respond to dietary modification. Affected individuals frequently present with other signs of autoimmunity. The diagnosis is made based on a characteristic combination of clinical symptoms, laboratory studies, and histological features on small bowel biopsy. Autoimmune enteropathy is associated with a number of other conditions and syndromes, most notably immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome and autoimmune polyglandular syndrome type 1 (APS-1). Diagnosis and treatment is challenging, and further research is needed to better understand the pathogenesis, disease progression, and long-term outcomes of these conditions.
Total serum immunoglobulin E (IgE) is elevated in multiple allergic diseases and is considered a good predictor of atopy. Several studies have been performed on the association of IgE levels with the polymorphism of the ADAM33 gene in asthmatic patients. The aim of this study was to determine whether there is an association between IgE levels and the genetic polymorphisms of the ADAM33 gene (T1, T2, T + 1, V4, S1, S2, and Q-1) in both healthy and asthmatic patients among Jordanians. The clinical data were collected for this case–control study from 267 asthmatic patients and 225 control subjects. Seven genetic polymorphisms (T1, T2, T + 1, V4, S1, S2, and Q-1) of the gene ADAM33 were analyzed using the polymerase chain reaction/restriction fragment length polymorphism method. The minor alleles (G) of T1, (A) of T2, T + 1, and (G) of V4 polymorphisms were associated with a significant increase in total serum IgE levels in adults but not children. The V4 genetic polymorphism, however, showed a significant association with IgE levels in both adults and children. The S1 polymorphism was significantly associated with the codominant module only in the adults. The S2 polymorphism showed a significant association (p-value < 0.05) in both codominant and recessive models. However, in the dominant model for both pediatric control and asthmatic patients, the association between the IgE and S2 polymorphism was insignificant (p-value = 0.7271 and 0.5259, respectively). This study found a statistically significant association between multiple ADAM33 genetic polymorphisms and IgE levels. Such findings add to the growing evidence that the ADAM33 gene has a major impact on IgE levels among asthmatic patients of Jordanian origin.
Introduction: Myositis ossificans (MO) is a benign non-neoplastic condition in which heterotopic bone formation occurs in soft tissues. Neurogenic MO is one variant of MO where the lesion is a result of neurological disorders, including brain and spinal cord injuries, especially when followed by immobility and spasticity. MO can also be a result of direct trauma or even genetic mutations. Case Report: We present three cases of young men (16, 37, and 22-year-old) who developed MO of the hip joint following brain or spinal cord injuries. One of them had also sustained a direct trauma to the affected hip joint at the time of the accident. All three patients presented with inability to walk independently due to diminished range of motion at the affected joint. X-rays and computerized tomography (CT) scans with 3-dimentional (3D) reconstruction suggested the diagnosis of MO, but the serum alkaline phosphatase was within normal limits at the time of presentation. The first case had bilateral involvement with unmistakable separation between the heterotopic bone formation and the frank hip joints on CT. This patient underwent successful staged excision of the ossifications. The second patient had unilateral hip joint involvement with the absence of clear separation between the heterotopic bone formation and the hip joint, thus, underwent total hip replacement for the affected side as excision was not possible. The third patienthad unilateral hip joint involvement and underwent excision of the ossification with dynamic hip screw insertion after sustaining a stable intertrochanteric fracture intraoperatively. Postoperatively, all three patients received physiotherapy and oral indomethacin. Upon recovery, they were able to walk independently with a near-normal range of motion at the hip joint. There was no evidence of recurrence upon follow-up visits, and CT scans in patients I and II. Follow-ups for patient III were not possible as the patient died 1 month after surgery due t
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