Thurston syndrome: report of a new case

Thurston syndrome (oro-facial-digital syndrome type V) is an autosomal recessive condition characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations. According to earlier reports, the syndrome is predominantly seen in subjects of Indian descent. We report a cast of Thurston syndrome in a 13-year-old south Indian boy who presented with oral features, incomplete median cleft of upper lip, and polydactyly of both hands and left foot. A precise clinical differentiation must be made since considerable overlap of the features of the various other forms could give rise to difficulties in diagnosing the condition.     

Mitochondrial Dependent Apoptosis: Ameliorative Effect of Flunarizine on Ischemia–Reperfusion of Celiac Artery-Induced Gastric Lesions in the Rat

Objectives  

Ischemia–reperfusion is a major event for induction of cellular apoptosis. Apoptosis is due to the activation of death receptor and/or mitochondrial pathways. Mitochondrial permeability transition pore opening is the cause of apoptosis. In our present study, we tried to evaluate the role of flunarizine in ischemia and reperfusion of celiac artery-induced gastric lesion in the rat.     

Abnormalities of the muscles of the soft palate and their impact on auditory function in patients operated on for cleft palate: a case-control study

Patients with cleft palate have a high incidence of otitis media (OM), which, even after palatal repair, can persist and lead to auditory dysfunction. We aimed to identify what predisposes such patients to develop OM and correlate it with auditory function. We designed a prospective case-control study of adults who had had their cleft palates repaired in childhood. We examined the anatomy of the eustachian tube and the paratubal muscles of the soft palate with magnetic resonance imaging (MRI), assessed auditory function, and correlated the results to evaluate the impact of the pathological anatomy on the function of the middle ear. A total of 64 ears in 32 patients were evaluated (Group A, n = 16) (Group B, controls = 16). MRI showed a short eustachian tube with a shortened tensor attachment in Group A when compared with Group B. The pterygoid hamulus was found to be intact in both groups, but extensive perihamular fibrosis was seen in Group A. A total of 15 ears in Group A had loss of hearing (prevalence ratio (PR) 1.08), (13 mild loss, and 2 moderate loss), and impedance audiometry showed effusion of the middle ear in 12 ears in 16 patients, and dysfunction of the eustachian tube with high negative pressure in the middle ear in four ears in the 16 patients (PR 4.6). These could be positively correlated with the pathological anatomy using Pearson’s correlation coefficient. Otitis media is persistent and can lead to conductive hearing loss in adults who have been operated on for cleft palate. This can be attributed to abnormalities in the development of the eustachian tube and the paratubal musculature.     

Dominant negative suppression of major histocompatibility complex genes occurs in trophoblasts.

BACKGROUND: Polymorphic class I and II major histo-: compatibility complex (MHC) genes are not transcribed in trophoblasts although many immune system cells express these genes constitutively. To study the molecular biology of MHC suppression for the purposes of potential transgenic animal development, we examined the effect on MHC expression in B cells by fusing them with trophoblasts. METHODS: Trophoblasts and B cells with separate selection markers were fused with polyethylene glycol. After growth in double selection media, the hybrids were analyzed for HLA-A, -B, -C, -DR, -DP, and -DQ expression by fluorescence-activated cell scanning and class I and II mRNA by Northern blotting. Class II promoter activity in trophoblasts was then analyzed by transfection of a lethal reporter construct and subsequently, the class II transactivator. RESULTS: Class I and II surface antigens and their corresponding mRNA were completely suppressed in the hybrids. The lethal reporter construct demonstrated that class II suppression resulted from lack of activation of the class II promoter. This in turn was caused by lack of functional class II transactivator. CONCLUSIONS: These data indicate that dominant negative trophoblast factors, either directly or indirectly, suppress expression of the MHC genes. If these factors can be cloned, the potential exists for developing transgenic animals that cannot express MHC or peptide antigen to T cell receptors through the MHC system.