The signs of DN and DS-T and NTD are similar. DS and DN can not be distinguished by the sole examination of the axial skeleton for joint dislocation; hence other clinical tests are needed. The first diagnostic step is to exclude other disorders, which have similar signs and symptoms. These features of DS include a shorter life expectancy, a higher frequency of malignant diseases and mental disorders, poor growth of the children and facial abnormalities. Treatment of DS-T and NTD is similar to treatment for DS.
In our sample of adolescents, DS is not so often encountered as AS in the general population. Although the exact prevalence of DS among male patients referred is not yet known, DS should be considered an extremely important differential diagnosis in patients with unexplained growth retardation at birth.
George Syndrome is a chronic and debilitating genetic disorder. Treatment is limited to supportive care. Some research and anecdotal experience suggest that the disease may have a very early age of onset and be associated with a genetic disorder that would be ideal candidates for fetal gene therapy. The feasibility of this approach to treat Geogèe Syndrome is proposed.
Inherited factors, especially syndromic congenital diseases, or environmental exposures have been shown to be the cause of the development of DS. Further studies are required to confirm the inheritance pattern of DS as well as the environmental risk factors like infections, toxins and hormones that may be involved in causing DS. The DS2 is caused by mutations in RBM8A gene.
DGS is a heterogeneous syndrome comprising a range of clinical syndromes which vary in the severity and expressivity of features. The differential diagnosis, which is challenging due to the heterogeneity of these syndromes, should be based on the patient's medical history, physical examination, and laboratory results.
Findings from a recent study of this open label study demonstrated that zyn002 was more effective than a placebo in the treatment of the dermatologic manifestations of DS. The use of zyn002 for this purpose has been a subject of much interest for clinicians and researchers in the field of DS.
Children with digeorge syndrome exhibit a wide variety of developmental abnormalities. Thus, they may present with a number of developmental problems that can lead to serious intellectual disability. Our studies indicate that the IQ in this syndrome is lower than the expected average for a child matching the siblings with an IQ>70. The presentation of digeorge syndrome in the adult population requires that clinicians be alert to the possibility that there is little awareness of this syndrome. Results from a recent paper will help inform parents, health care providers and patients about this disorder and will help to increase the awareness of this syndrome amongst healthcare professionals.
The main conditions treated with Zyn002 included acne, eczema, and psoriasis. The most common treatments included treatment of rosacea with Zyn002 and trichotillomania therapy with Zyn002. There has not been an extensive study of comorbidities experienced by individuals treated with Zyn002. The most common side effects were acne and rosacea. However, most of the side effects were mild to moderate. Some side effects were related to prescription medications taken by the patients and were not related to Zyn002. The Zyn002 prescription may have led to the occurrence of side effects because of an increased awareness of the medication.
There are no known drug treatments for the symptoms of DS. In most cases, the symptoms are manageable. However, DS is now known that some symptoms can be better controlled thanks to the development of effective therapeutic procedures. One of these therapeutic treatments for patients with DS is acupuncture. In this treatment, it is important to examine whether the needling techniques are correct, and to ensure that the points of needling do not overlap. Another therapeutic procedure used in clinics is infrared light. At present, patients with DS can wear goggles to see the light from lamps. For patients with less severe DS, therapists can use infrared light and a machine to put the patient under infrared light treatment.
Zyn002 was well tolerated in a Phase 3 study of more than 1200 people with primary immunodeficiency disorders (CVID and XLA). Overall, participants on Zyn002 reported fewer upper respiratory tract infections (URTI) and had fewer non-strep throat events compared with those on placebo. There are many medications that have overlapping side effects, so there is a risk of an increase in side effects from treatment. However, considering the fact that many people on the Zyn002 study had a primary immunodeficiency (often called a 'high-risk individual'), I think the overall risk for a person is a reasonable one.
Zyn002 induces few side effects under a controlled condition, and no serious and unexpected side effects have been identified so far. These data should reassure patients and prescribers that zyn002 is unlikely to predispose patients to major adverse effects.