Ocular manifestations in lipoid proteinosis: A rare clinical entity

Lipoid proteinosis is a rare autosomal recessive genodermatosis with abnormal lipid protein complexes deposition in different parts of the body, especially in the skin and mucus membranes of the upper aerodigestive tract. Though ocular involvement in lipoid proteinosis is rare, ophthalmologists may encounter diverse ocular complications accompanying this syndrome in clinical practice. We describe a case of lipoid proteinosis involving bilateral eyelids with pathognomonic moniliform blepharosis in a 33-year-old gentleman who presented with the complaints of itching of eye lids on and off since 10 years.     

Complete Sella Turcica Bridges Prevalence and Dimensions

Interclinoid ligaments which connect the anterior and posterior clinoid processes comprise a group of intrinsic ligaments of sphenoid bone. The complete sella turcica bridge corresponds to the complete ossification of the interclinoid ligaments. 112 dry human adult skull bones were studied for presence of ossified interclinoid ligaments. Nine skulls (8.04%) showed sella turcica bridges, out of which six were unilateral and three bilateral. The average length of the bridge was 11.67mm. The average width and thickness at the anterior clinoid process was 6.33mm and 4.33mm ; atthe middle of the bridge 3.08mm and 2.66mm; and atthe posterior clinoid process, 4.91 mm and 3.66mm, respectively. Anomalies of sellar region are not very rare and may pose difficulties in interpretation of Magnetic Resonance Imaging or Computed Tomographyforthe radiologist. Thesefindings would also guide the neurosurgeons in planning neurosurgical procedures involving the sellar region.     

Odor Hedonic Capacity and Anhedonia in Schizophrenia and Unaffected First-Degree Relatives of Schizophrenia Patients

Objective: There is increasing evidence that schizophrenia patients have difficulties in the hedonic appraisal of odors. In a prior study, we assessed olfactory hedonic perception birhinally and found that males with schizophrenia failed to attach the appropriate hedonic valence to a pleasant odor, despite correctly perceiving changes in odor intensity. Female patients, in contrast, exhibited normal responses. The current study extends this work by examining odor valence processing in unaffected first-degree relatives of schizophrenia patients, to determine the extent to which this abnormality may be genetically mediated. We also examine odor valence processing unirhinally, rather than birhinally, to probe possible lateralized differences in patients’ hedonic processing deficits. Method: Individuals with schizophrenia (n = 54), first-degree unaffected family members (n = 22), and demographically matched controls (n = 45) were administered the Suprathreshold Amyl Acetate Odor Intensity and Odor Pleasantness Rating Test. Results: In contrast to family members and controls, both male and female schizophrenia probands underevaluated the hedonic characteristics of amyl acetate at lower concentrations and overevaluated its pleasantness at concentrations perceived as unpleasant by both controls and relatives. These patient-specific differences could not be explained by differences in smoking habit, medication use, or subjective ratings of odor intensity. However, they were associated with increased levels of anhedonia/asociality and negative symptomatology. Conclusions: Our findings suggest that both male and female schizophrenia patients have difficulties in the unirhinal appraisal of hedonic valence. Normal responses in unaffected first-degree relatives suggest that this is an environmentally, rather than genetically, mediated abnormality denoting negative symptomatology.     

Toll-like receptors: Significance,ligands, signaling pathways,and functions in mammals

This review attempts to cover the implication of the toll-like receptors (TLRs) in controlling immune functions with emphasis on their significance, function, regulation and expression patterns. The tripartite TLRs are type I integral transmembrane receptors that are involved in recognition and conveying of pathogens to the immune system. These paralogs are located on cell surfaces or within endosomes. The TLRs are found to be functionally involved in the recognition of self and non-self-antigens, maturation of DCs and initiation of antigen-specific adaptive immune responses as they bridge the innate and adaptive immunity. Interestingly, they also have a significant role in immunotherapy and vaccination. Signals generated by TLRs are transduced through NFκB signaling and MAP kinases pathway to recruit pro-inflammatory cytokines and co-stimulatory molecules, which promote inflammatory responses. The excess production of these cytokines leads to grave systemic disorders like tumor growth and autoimmune disorders. Hence, regulation of the TLR signaling pathway is necessary to keep the host system safe. Many molecules like LPS, SOCS1, IRAK1, NFκB, and TRAF3 are involved in modulating the TLR pathways to induce appropriate response. Though quantification of these TLRs helps in correlating the magnitude of immune response exhibited by the animal, there are several internal, external, genetic and animal factors that affect their expression patterns. So it can be concluded that any identification based on those expression profiles may lead to improper diagnosis during certain conditions.     

Transcatheter closure of perimembranous ventricular septal defect with amplatzer membranous occluder

BACKGROUND: Use of trancatheter device closure for membranous ventricular septal defect is still in evolving phase. We report the early and mid-term results of our experience with the new asymmetric Amplatzer membranous ventricular septal defect occluder. METHODS AND RESULTS: We attempted, transcatheter closure of perimembranous ventricular septal defect using asymmetric Amplatzer occluder in 26 patients. The patients were selected on the basis of transthoracic and transesophageal echocardiographic assessment of the ventricular septal defect. The procedure was successful in 21 (81%) patients. The age ranged from 3 to 23 years, weight from 10 to 59 kg and defect size ranged from 3 to 9 mm (mean: 5 +/- 1.8 mm). One patient had situs inversus with dextrocardia: 11 had aneurysmal tissue partly occluding the defect and the device was deployed either across (n=6) or within the aneurysmal sac (n=5). Three patients developed high degree atrioventricular block on attempts to cross the defect with the sheath and the procedure was discontinued. In two patients it was not possible to place the sheath in left ventricle despite repeated attempts. There was a residual flow in 4 (19%) patients at 24 hours. Two patients developed bundle branch block and none had complete heart block. At follow-up (1-9 months, n=20), residual flow was seen in two patients. None developed late conduction defect, aortic regurgitation, infective endocarditis or hemolysis. CONCLUSIONS: Transcatheter closure of perimembranous ventricular septal defect can be performed safely and effectively with the new asymmetric Amplatzer occluder device in selected patients with good short- and midterm results. These devices can be deployed safely in and across and the aneurysmal sacs. In selected cases, this procedure is a satisfactory alternative to surgery.     

Outcome following emergency surgery for refractory severe ulcerative colitis in a tertiary care centre in India

Background

The accurate diagnosis of abdominal tuberculosis usually takes a long time and requires a high index of suspicion in clinic practice. Eighty-eight immune-competent patients with abdominal tuberculosis were grouped according to symptoms at presentation and followed prospectively in order to investigate the effect of symptomatic presentation on clinical diagnosis and prognosis.

Methods

Based upon the clinical presentation, the patients were divided into groups such as non-specific abdominal pain & less prominent in bowel habit, ascites, alteration in bowel habit, acute abdomen and others. Demographic, clinical and laboratory features, coexistence of pulmonary tuberculosis, diagnostic procedures, definitive diagnostic tests, need for surgical therapy, and response to treatment were assessed in each group.

Results

According to clinical presentation, five groups were constituted as non-specific abdominal pain (n = 24), ascites (n = 24), bowel habit alteration (n = 22), acute abdomen (n = 9) and others (n = 9). Patients presenting with acute abdomen had significantly higher white blood cell counts (p = 0.002) and abnormalities in abdominal plain radiographs (p = 0.014). Patients presenting with alteration in bowel habit were younger (p = 0.048). The frequency of colonoscopic abnormalities (7.5%), and need for therapeutic surgery (12.5%) were lower in patients with ascites, (p = 0.04) and (p = 0.001), respectively. There was no difference in gender, disease duration, diagnostic modalities, response to treatment, period to initial response, and mortality between groups (p > 0.05). Gastrointestinal tract alone was the most frequently involved part (38.5%), and this was associated with acid-fast bacteria in the sputum (p = 0.003).

Conclusion

Gastrointestinal tract involvement is frequent in patients with active pulmonary tuberculosis. Although different clinical presentations of patients with abdominal tuberculosis determine diagnostic work up and need for therapeutic surgery, evidence based diagnosis and consequences of the disease does not change.