Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Disagreement as to whether Ig levels are high, low, or normal at different ages in different groups of trisomic children has interfered with defining the associated immunodeficiency state. Fetal Ig production was assessed by measuring cord blood IgM and IgA of five trisomy 21, 97 normal, and 37 control newborns with other birth defects. Trisomic infants showed significantly lower values. Cord blood IgG values showed no differences between groups when corrected for fetal blood weight. The data indicate that children with trisomy 21 have an impaired humoral immune response to utero.
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PMID:Decreased cord blood IgM and IgA in trisomy 21. 646 Dec 65

Children with bacterial tracheitis present with the symptoms of viral laryngotracheobronchitis or epiglottitis, but do not respond to appropriate therapy for these diseases and frequently develop acute respiratory decompensation. Since the treatment and outcome of bacterial tracheitis differ so much from those of viral laryngotracheobronchitis and epiglottitis, prompt and accurate diagnosis is essential. The aim of this study was to evaluate the significance of different diagnostic characteristics in a group of eleven patients and to compare the results to those recently reported in the pediatric and otorhinolaryngologic literature. The present study suggests that reliable predictive factors do not exist for bacterial tracheitis. No single clinical, radiological or laboratory feature was a reliable diagnostic predictor for bacterial tracheitis, nor was it any combination of these features. The only diagnostic procedure to distinguish bacterial tracheitis accurately and promptly from other forms of acute obstructive upper airway diseases was direct laryngo-tracheo-bronchoscopy. Following endoscopic removal of all tracheal secretions and pulmonary toilet, nasotracheal intubation provides sufficient airway maintenance and obviates the need for tracheostomy. Endoscopy is thus diagnostic and therapeutic at the same time. If bacterial tracheitis is suspected a direct laryngoscopy and rigid tracheobronchoscopy should be performed under general anesthesia, as prompt diagnosis and adequate treatment are essential to survival. The cultures of the purulent tracheal secretions frequently revealed Staphylococcus aureus in combination with various pathogens, particularly the involvement of Pseudomonas aeruginosa was noted in two patients. Our data imply a susceptibility of children with Down's syndrome or immunodeficiency to bacterial tracheitis.
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PMID:Airway endoscopy in the diagnosis and treatment of bacterial tracheitis in children. 825 82

The above combination is probably due to immunodeficiency characteristic of Down's syndrome.
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PMID:[Combination of generalized intestinal candidiasis and balantidiasis in a child with Down syndrome]. 1139 94

Down syndrome (DS) is a frequent chromosomal aberration. Triplication of the fragment 21q22 of chromosome 21 is sufficient to cause the DS phenotype including immunodeficiency, premature aging, mental retardation, and an increased risk of leukemia. Chromosomal aberrations caused by X-ray irradiation were observed in DS lymphocytes and DS fibroblasts, but the correlation between chromosomal sensitivity, repair deficiency, and radioresistant DNA synthesis was not clear. Here some insight into the nature of this problem has been made. Besides, new arguments have been provided in favour of genetic heterogeneity of this genetic disorder.
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PMID:[Down syndrome: pathogenesis, radioresistant DNA synthesis and chromosomal instability]. 1214 83

Cutaneous leishmaniasis is an endemic protozoan infection in Sardinia, one of the major islands of the Mediterranean Basin. The main causative strain in this country is Leishmania infantum, which rarely involves mucocutaneous areas, but has the potential to cause visceral leishmaniasis. An atypical leishmaniasis involving the inferior lip of a 57-year-old female with Down's syndrome was observed at the Dermatology Department of Cagliari (italy). The diagnosis was mainly based upon histopathological examination, revealing intra- and extra-cellular leishmania amastigotes. The leishmania infantum zymodeme MON-111 was identified by isoenzymatic characterization. Laboratory investigations revealed a normal complete blood count and biochemistry profile, except for an inverted CD4/CD8 ratio. Treatment with meglumine antimoniate 60 mg/kg/day (Glucantime) intramuscularly for 15 days, followed by intralesional administration 1 ml weekly for 4 weeks led to complete recovery. No relapses were observed at 6-month follow-up. The unusual localization is likely to be a reflection of the uncommon site of inoculation of the protozoa, transmitted by bites from flying vectors. Nevertheless, the presence of Down's syndrome in our patient may have contributed to the atypical presentation by traumatic exacerbation of the lesion, due to repeated auto-induced microtraumas of the inferior lip accompanied by subclinical immunodeficiency. In fact, the specific immune response to Leishmania infection depends on a host-cell-mediated immune response, reported as defective in Down's syndrome patients. Differential diagnosis and early detection of the infection are necessary in order to start effective treatment and prevent more serious complications.
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PMID:Leishmaniasis of the lip in a patient with Down's syndrome. 1532 5

Down's syndrome is the most commonly occurring genetic abnormality, involving about 1 in 600 births. The increasing life expectancy of individuals with Down's syndrome has revealed the presence of several unexpected pathological processes. Among these, ENT disorders hold an important place because of their high incidence and severity. Accurate knowledge of the pathophysiology underlying ENT disorders (facial dysmorphism, ear abnormalities, upper airway abnormalities, and immunodeficiency) allow an understanding of the reasons for the development of the upper airway obstruction, obstructive sleep apnea syndrome, subglottic stenosis, deafness, speech delay, and ENT infections that occur frequently in these children. Early screening and specific treatment may allow some of the long-term sequelae to be avoided, or at least their prognosis to be improved. In order to help health care professionals in their daily practice, this review makes a series of recommendations to allow them to develop a master plan for the ENT management of children with Down's syndrome. In children with Down's syndrome, ENT disorders occur frequently and are often severe. They develop owing to craniofacial, functional, and immune system abnormalities. Early screening and treatment allow improvements in long-term outcomes.
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PMID:ENT and speech disorders in children with Down's syndrome: an overview of pathophysiology, clinical features, treatments, and current management. 1558 73

Isolates cases and groups of patients co-infected with human T cell lymphotropic virus type I (HTLV-I) and Norwegian scabies have been previously reported. Peru is considered to be endemic for HTLV-I. Between June 1999 and December 2000, 23 patients with Norwegian scabies were enrolled in this study after written informed consent was obtained. Antibodies against HTLV-I were detected by an enzyme-linked immunosorbent assay and confirmatory Western blot. Patients ranged in age from 3 months to 84 years; 15 (65.2%) were female. Infection with HTLV-I was found in 16 (69.6%) patients. Comorbid features included corticosteroid therapy (8.6%), malnutrition (8.6%), and Down's syndrome (4.3%). Among those who consented to be tested for human immunodeficiency virus (n = 13, 56.5%), no one had a positive result. The three patients that reported one or more prior episodes of Norwegian scabies were infected with HTLV-I and two of these HTLV-I-positive patients died. Infection with HTLV-I is an important co-factor related to Norwegian scabies in Peru. In our setting, the evaluation for HTLV-I in all Norwegian scabies cases is highly recommended, especially when no other risk factors are apparent.
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PMID:Norwegian scabies in Peru: the impact of human T cell lymphotropic virus type I infection. 1596 76

Adolescent perception of physical and social impact of chronic illness was assessed to determine (1) if there is greater prejudice toward epilepsy than other chronic disease and (2) if adolescents with chronic disease have less prejudice toward similarly affected peers with all types of chronic disease or just their specific chronic disease. Cognitively normal teens aged 13 to 18 years without chronic disease (n = 41) and with epilepsy (n = 32), asthma (n = 38), diabetes (n = 21), and migraine (n = 17) were interviewed in the outpatient clinics of a tertiary care pediatric center regarding their perceptions of the physical and social impact of eight chronic diseases (epilepsy, asthma, diabetes, Down syndrome, arthritis, migraine, leukemia, human immunodeficiency virus [HIV] infection). Epilepsy was perceived to have a more adverse physical impact than all chronic illnesses except Down syndrome. The perception was that it more frequently caused mental handicap, injured the afflicted individual and bystanders, and led to death. Epilepsy was also perceived to have a more negative social impact, particularly on behavior, honesty, popularity, adeptness at sports, and fun. Significantly more adolescents expressed reluctance to befriend peers with epilepsy, both from their own and their perceived parental perspectives. Having a chronic disease did not generally alter the adolescents' perceptions of peers with chronic disease. However, cases with epilepsy ranked this disease to have less social impact than teens with other chronic diseases. In conclusion, adolescents consider epilepsy to have a greater physical and social impact than most chronic diseases. Educational efforts should focus on the "normality" of most persons with epilepsy and emphasize the low risk of injury when proper first aid is followed.
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PMID:Adolescents' perception of epilepsy compared with other chronic diseases: "through a teenager's eyes". 1690 23

Congenital pyloric atresia (CPA) is a very rare condition that was first described by Calder in 1749. Commonly, CPA occurs as an isolated lesion, which has an excellent prognosis, but it can also be seen in association with other malformations, which can have a negative impact on the final outcome. The medical records of all patients with the diagnosis of CPA treated at our hospital were retrospectively reviewed for: age at diagnosis, sex, presenting symptoms, history of polyhydramnios, diagnosis, associated anomalies, operative findings, treatment and outcome. Eleven cases with the diagnosis of CPA were treated at our hospital. There were five males and six females. Seven were products of full term normal vaginal delivery and the remaining four were prematures. Their birth weights ranged from 1.2 to 3.9 kg (mean 2.2 kg). Polyhydramnios was seen in seven (63.6%). Associated anomalies were seen in six (54.5%). These included epidermolysis bullosa (EB) in three, hereditary multiple intestinal atresias (HMIA) in two including a duplication cyst in one of them, esophageal atresia in one, Down's syndrome in one, congenital heart disease in one, cleft palate in one and aplasia cutis congenital (ACC) in one. Intraoperatively, five had pyloric diaphragms, in two of them there were double diaphragms, three had pyloric atresia with a gap between the two ends and two had pyloric atresia with no gap. One of them had duodenal perforation as well as ileal perforation. The patients with pyloric diaphragms had excision of diaphragms and Heineke-Mickulicz pyloroplasty. Four of the other five patients had gastro-duodenostomy. One of them also had duodeno-jejunostomy due to associated distal duodenal atresia and excision of duplication cyst. The patient with duodenal and ileal perforation and because of the marked distension of the duodenum had reduction duodenoplasty, gastroduodenostomy, and duodeno-jejunostomy. The area of ileal perforation was resected and end-to-end anastomosis was done after correction of the associated malrotation. One patient with associated esophageal atresia had gastrostomy and gastrojejunostomy. Post-operatively, all did well initially, but subsequently, six of them died giving an overall survival of 45.5%. Sepsis was the cause of death in all of them. CPA is very rare and when it occurs in isolation it has a good prognosis. The association of CPA with HMIA is universally fatal. CPA in association with EB has a high mortality but there are encouraging results with the use of steroids and phenytoin. Sepsis continues to be the main cause of death and an associated combined immunodeficiency should be excluded.
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PMID:Congenital pyloric atresia and associated anomalies. 1739 Jan 40

Polypoid tongue lesions arising after bone marrow transplantation have been described. Their etiopathogenesis has been unclear, as has their relationship to similar lesions arising in other settings of chronic immunodeficiency. We identified 12 polypoid lesions (from 8 immunosuppressed patients aged 6 months to 13 years) among all tongue lesions biopsied over the course of 13 years at our institution. Clinical history, histologic and ultrastructural features, special stains (Gram, Grocott methenamine silver, acid-fast bacilli, CD34, actin, desmin, human herpesvirus-8), in situ hybridization for Epstein-Barr virus, and cytogenetic features were studied. Immunocompromise was from bone marrow transplantation for severe combined immunodeficiency (n = 1) and acute lymphoblastic leukemia (n = 3), hypogammaglobulinemia (n = 2), 22q11 deletion syndrome (n = 1), and asthma therapy (n = 1). Histologic examination revealed fibrous stromal cores with squamous epithelial covering and various degrees of ulceration and accompanying inflammation and granulation tissue. In 2 patients lesions were multiple in number. Fibroblasts were variably positive for smooth muscle actin and desmin and negative for CD34. Special stains, immunohistochemistry, in situ hybridization, and ultrastructural examination identified no organisms except occasional surface bacteria. The tongue lesion from 1 patient with Down's syndrome showed t(2;9)(p11;q34)+21 (translocation not seen in peripheral blood). Another patient had constitutional del 22q11. All transplant patients had Philadelphia chromosome-positive acute lymphoblastic leukemia (ALL) (translocations involving 9q34 and 22q11). Patients with congenital immunosuppression had polyps arise at significantly younger ages than did patients with acquired immunosuppression. Immunosuppression-related lingual polyps are a fibroproliferative process occurring in patients with bone marrow transplantation and other immune-deficient conditions. Our findings indicate that these polyps are driven by both immunosuppression and chromosomal rearrangement.
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PMID:Immunosuppression-related fibroproliferative polyps of the tongue. 1763 30


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