Mannose-Binding Lectin Gene Variants as Disease Susceptibility Biomarkers in Rheumatoid Arthritis.

Background: Rheumatoid arthritis (RA) is a chronic, inflammatory autoimmune disease characterized by progressive destruction of peripheral joints. About 1% of the human population worldwide is suffering from this disease. The pathophysiology of RA is largely being influenced by immune dysregulation. Mannose-binding lectin (MBL), an acute-phase protein, has been reported to play an important role in pathogenesis of RA by the activation of complement pathway. Various studies documented the established the role of MBL in pathogenesis of various autoimmune diseases, including RA. MBL protein is encoded by gene MBL2, mapped on chromosome 10q11.2-q21. Objective: Both MBL serum levels and activity are mainly determined genetically by its variants. So considering the putative clinical role of MBL2, this case-control association study was designed to assess its six functional variants in a northwestern Indian cohort. Methods: Genetic typing of six MBL2 variants was done by amplification refractory mutation system-polymerase chain reaction. Data were analyzed using suitable statistical tools. Results: Significant difference has been observed in genotypic and allelic distribution between cases and controls for rs11003125. Comparison of allelic distribution for rs1800450 showed significantly high prevalence of A allele in cases than controls. Conclusion: These results indicate that MBL2 variants may act as plausible marker for susceptibility toward RA. Keeping this in view, it is pertinent to screen these variants in other population groups of India.

Eosinophilic gastroenteritis as an uncommon cause of ascites recurrence in a young female.

Ascites appear as a clinical manifestation of various disorders, and the presence of raised levels of eosinophils in the peritoneal fluid characterizes eosinophilic ascites, which is an extremely rare disorder. Eosinophilic gastroenteritis is one of the uncommon causes of ascites. If not investigated thoroughly, ascites recurrence in a young female with a history of tuberculosis may be wrongly attributed to tuberculosis recurrence in an endemic country. The etiology of ascites in our case was correctly identified as the subserosal form of eosinophilic ascites. Oral corticosteroids form the mainstay of treatment in such cases. Eosinophilic gastroenteritis is a rare disease, but a thorough workup and a strong clinical suspicion may help in the successful diagnosis and treatment of such cases.

A case of novel mutation in ANOS1 (KAL1) gene and review of Kallmann syndrome.

Summary: Kallmann syndrome (KS) is a genetically heterogeneous condition characterized by hypogonadotropic hypogonadism with coexisting anosmia or hyposmia along with potential other phenotypic abnormalities depending on the specific genetic mutation involved. Several genetic mutations have been described to cause KS. The ANOS1 (KAL1) gene is responsible for 8% of mutations causing KS. A 17-year-old male presented to our clinic with delayed puberty and hyposmia, along with a family history suggestive of hypogonadism in his maternal uncle. Genetic testing for KS revealed complete exon 3 deletion in the ANOS1 gene. To the best of our knowledge, this specific mutation has not been previously described in the literature. Learning points: Missense and frameshift mutations in the KAL1 or ANOS1 gene located in the X chromosome are responsible for 8% of all known genetic mutations of Kallmann syndrome. Exon 3 deletion is one of the ANOS1 gene is a novel mutation, not reported before. Targeted gene sequencing for hypogonadotropic hypogonadism can be employed based on the phenotypic presentation.

Portal Vein Thrombosis-a Rare Complication of SARS-CoV-2 Infection.

The SARS-CoV-2 is the causative organism for COVID-19 disease. It primarily affects the respiratory system. With time, some new extra-pulmonary manifestations of COVID-19 disease have been identified. Recent studies have shown that patients with SARS-CoV-2 infection may have a hypercoagulable state which explains the increased incidence of thrombotic events in these patients without any known risk factors. The most common thrombotic event described in these patients is pulmonary embolism. Intra-abdominal thrombosis is a rare thrombotic complication of COVID-19 disease. Here, we report a case of COVID-19 disease associated with acute portal vein thrombosis.

Kidney function in minority children and adolescents with metabolically healthy and unhealthy obesity.

Metabolic syndrome and/or body mass index (BMI) ≥40 kg/m2 are risk factors for kidney function decline in the general population. To compare creatinine (Cr), estimated glomerular filtration rate (eGFR) and blood urea nitrogen (BUN) between minority children and adolescents with metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO), a chart review was conducted on subjects aged 4 to 20 years with BMI ≥95th percentile from July 2014 to April 2017. They were stratified into MHO and MUO groups. Cr, eGFR and BUN were studied. Total n = 277: MHO n = 105 vs MUO n = 172. Cr was higher and BUN was lower in MUO whereas eGFR did not differ between the groups. Using general linear model, we found that metabolic status predicted BUN (P = .009) but not Cr or eGFR. When age, sex and Tanner stage matched, BUN, Cr and eGFR were similar between the groups. Higher BUN in MHO could be due to higher dietary protein intake. Subjects were divided into BMI ≥40 vs <40 kg/m2 , BUN and eGFR were not different. A trend towards higher Cr in those with BMI ≥40 kg/m2 (P = .054) was found; the group being older and taller. After age and height matching, all outcomes were not different. Higher Cr was found in those with elevated blood pressures vs the MHO (P = .047). Those with diastolic blood pressure (DBP) ≥90th percentile had higher Cr than those with systolic blood pressure ≥90th percentile (P = .017). Children and adolescents with MUO, and those with BMI ≥40 kg/m2 did not appear to have early diminished kidney function. Higher Cr, although in normal range, occurred in those with abnormal DBP.

Genotypic-Phenotypic Screening of Galectin-3 in Relation to Risk Towards Rheumatoid Arthritis.

CONTEXT: Galectin-3, a 35 kDa protein, is the only known member of chimera type galectin family. A growing body of evidences demonstrated the pro-inflammatory role of galectin-3 in the pathogenesis of Rheumatoid arthritis (RA). OBJECTIVES: Keeping in view the pivotal role of galectin-3 in pathogenesis of RA, the present case-control study was designed for genotypic and phenotypic screening of galectin-3 in RA. METHODS: A case-control association study recruited 200 RA patients and 200 age- as well as gender- matched (p >0.05) controls, after written informed consent. A total of eight SNPs were selected on the basis of in silico analysis, which were subjected to genetic analysis using different techniques. LD was calculated and different haplotypes were constructed. RESULTS: Significant association of three SNPs i.e. rs1009977, rs4644, and rs74050921 along with elevated galectin-3 levels were observed with susceptibility towards RA. Further, high prevalence of TACGTAGC haplotype were observed in RA patients. In addition to the studied SNPs, eight novel variants were also identified in the CRD region of LGALS3. Genotype phenotype correlation indicated significant elevated galectin-3 levels among different genotypes in rs1009977 and rs74050921. CONCLUSION: The findings of the present study may indicate the role of galectin-3 and its variants in pathogenesis of RA.

Failed Back Surgery Syndrome: Evaluation with Magnetic Resonance Imaging.

INTRODUCTION: Failed Back Surgery Syndrome (FBSS) is a generalized term used to describe varied spinal symptoms of patients who have had unsuccessful results after spinal surgery. The treatment of FBSS is challenging and varies from conservative management to reoperation. Imaging plays a crucial role in identifying the cause and helps to guide the appropriate therapy. Contrast enhanced Magnetic Resonance Imaging (MRI) with its superior resolution is the imaging modality of choice. AIM: To evaluate the spectrum of imaging findings on postoperative MRI in FBSS. MATERIALS AND METHODS: A total of 30 postoperative symptomatic patients of FBSS were included in this cross-sectional study. Of these, 26 had undergone surgery for degenerative disc disease and four had spinal fixation surgery for spondylolisthesis or trauma. Patients were subjected to detailed clinical examination. All patients underwent MRI which was done on 1.5 Tesla scanner with standard sequences in all planes. Contrast was administered in all cases. Non Contrast Computed Tomography (NCCT) scan was done in patients with metallic implants to better delineate the placement of the implant. Patients with contraindication to MRI scanning were excluded from the study. RESULTS: Of the total 30 cases (23 males and seven females) of FBSS that were evaluated with contrast enhanced MRI of the spine, 16 patients had recurrent/residual disc herniation, six had epidural scar tissue, three patients had recurrent disc herniation and scar tissue, two had evidence of post surgery arachnoiditis, two patients had postoperative discitis and one patient had implant mal alignment. Eight patients underwent reoperation for recurrent disc herniation and one patient for implant malalignment after imaging. CONCLUSION: MRI is the modality of choice for evaluating the postoperative spine. It helps to identify the cause and guide the appropriate treatment.

One-year-old male with accelerated growth and development.

A 1-year-old male child with isosexual central (gonadotropin-dependent) precocious puberty caused by hypothalamic hamartoma is reported. Details of the diagnosis based solely on neuromaging characteristics, and satisfactory results of medical treatment with gonadotropin releasing hormone agonist analogues, are highlighted.