Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Flat wart-like lesions of two patients with epidermodysplasia verruciformis (EDV) were associated with pink, tan or depigmented pityriasis-like macules. There was no familial history nor mental retardation. Human papilloma virus (HPV) type 5 was demonstrated in the two patients and was responsible for the pityriasis-like lesions. Malignancies seem to be closely related to HPV-5 infection since bowenoid transformation occurred in the 2 patients. Immunological studies showed an increase of serum IgE in both patients and an important decrease of IgM in one of them. Most of delayed hypersensitivity skin tests were negative. T-cell percentages (E rosettes) were decreased in one patient, normal for the other one. The mitogenic response to PHA and ConA was markedly depressed in the two patients but returned to normal values in one of them after 3 months of aromatic retinoid (Ro 10-9359) treatment. Beside the viral type, the defect of cell mediated immunity could play an important role in the disease and in the malignant conversion of the lesions. A long-term preventive treatment by retinoic acid derivatives could be of interest for patients with HPV type 5 EDV.
 ...
PMID:[Epidermodysplasia verruciformis (2 cases). Immunological study (author's transl)]. 625 27

We describe a new familial case of ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) in a woman of 29 years and in her brother of 30 years. The proband showed mental retardation, facial anomalies, recurrent respiratory infections, combined deficit of IgM and IgE immunoglobulin classes, and paracentromeric heterochromatin instability of chromosomes 1, 9, and 16. The brother had minor signs of the syndrome and had an apparently normal phenotype. Their parents were healthy and non-consanguineous. Chromosome anomalies consisted of homologous and non-homologous associations, chromatid and isochromatid breaks, deletions of whole arms, interchanges in the paracentromeric region, and multibranched configurations of chromosomes 1, 9, and 16. CD bands and fluorescence in situ hybridisation with alphoid DNA sequence probes specific for the centromeres of chromosomes 1 and 16 showed that the centromere was not directly implicated in the formation of multibranched configurations. These cases indicate the autosomal recessive mode of inheritance and the variable expressivity of the ICF syndrome.
 ...
PMID:ICF syndrome with variable expression in sibs. 832 Jul 11

A 52-year-old woman in good health with a family history negative for dermatologic diseases presented to our department with thickening and dystrophy of all her fingernails and toenails that started when she was born. She also had hyperkeratosis on the palms of her hands and soles of her feet that was confined to sites of pressure and recurrent plantar blisters that began appearing at puberty. The patient reported marked pain while walking from such plantar involvement. Her medical history revealed a persistent hoarseness; palmoplantar hyperhidrosis; and the appearance of numerous cysts on her back, neck, and scalp since she was 20 years old. These latter lesions had been diagnosed as multiple steatocystoma on the basis of the histologic features. Upon examination, all of her fingernails and toenails appeared shortened, thickened,and dystrophic (Figures 1-3). In addition, they presented subungual keratosis and a yellowish-gray color. Hyperkeratosis and small ulcerations were present on the perionychium. Palmoplantar keratoderma was evident, especially on the soles,in association with superficial erosions (Figure 4). Keratosis pilaris was evident on the extensor surfaces of the forearms as well as on the anterior surfaces of the legs. Multiple nodules were detected on the patient's neck, trunk, and axillary regions(Figure 5). They consisted of multiplex steatocystoma and were characterized by a hemispheric shape, a normal-appearing skin color, and by an elastic consistency on palpation. Oral and dental changes were not detected, although hair anomalies were evident. Laboratory parameters disclosed eosinophilia and increased total IgE levels. The results of serum protein electrophoresis was normal, as were those concerning hepatic and renal functions. The ophthalmology examination showed neither corneal dyskeratosis nor cataracts. The neurologic-psychiatric visit revealed slight mental retardation.
 ...
PMID:Case study: pachyonychia congenita: a mixed type II-type IV presentation. 1524 89

Job's syndrome also known as hyper-IgE syndrome is a rare disorder associated with immunodeficiency. It includes recurrent abscesses of staphylococcal origin affecting skin and musculoskeletal system, recurring pneumonia and pneumatoceles, eosinophilia, craniofacial, and bone growth changes. This case report describes the disease and anesthetic management. Ten-year-old male child weighing 18 kg was diagnosed recently as Job's syndrome and was posted for abscess drainage over chest, back, upper, and lower limb. He had associated severe mental retardation. The choice of anesthetic technique was based on multiple surgical sites and associated mental retardation. Due to associated mental retardation child was sedated under our vigilance with syrup midazolam 9 mg orally and EMLA cream applied with occlusive dressing 30 min prior to shifting to OT. Upon arrival to the OT, pulse oximetry, noninvasive blood pressure, Electrocardiogram, temperature probe, cardioscope were attached. Inhalation induction done with sevoflurane and IV line secured with 22G cannula. Glycopyrolate 0.1 mg + fentanyl 30 mcg + Propofol 30 mg given intravenously. General anesthesia was maintained with bag and mask ventilation with oxygen + nitrous oxide + sevoflurane with spontaneous ventilation. Postoperative period was uneventful. This case is presented in view of rarity of its occurrence and frequency of repeated surgical intervention and anesthesia. Associated mental retardation in this case could be an isolated incident or could be an occurrence related to underlying disease process itself.
...
PMID:Anesthetic management in a child with Job's syndrome. 2588 24