Monogenic lupus with neuroregression in an infant due to rare compound heterozygous variants in C1QA gene: Case based review.

BACKGROUND: Monogenic lupus is a rare variant of systemic lupus erythematosus (SLE) that develops in patients with a single gene disorder. Early complement component deficiencies were the first forms of monogenic lupus to be described and C1Q gene mutations are one of the most common forms. C1QA complement deficiency has been reported to occur usually due to biallelic variants in C1QA gene and compound heterozygous variants in C1QA gene have rarely been reported. Majority of the monogenic lupus patients with C1Q deficiency present with mucocutaneous, renal, and musculoskeletal manifestations. Our patient is an unusual case of monogenic lupus with severe neurological manifestations along with cutaneous, haematological, and hepatic manifestations secondary to rare compound heterozygous variants in C1QA gene and anti-ribosomal P autoantibody positivity. She was treated with glucocorticoids, rituximab and fresh frozen plasma with partial neurological recovery. Thus, we present a unique case of monogenic lupus due to a rare compound heterozygous variant in C1QA gene with a brief review of literature.

Comparison of IPSS score and voiding parameters in men presenting with LUTS.

INTRODUCTION: This study compares subjective lower urinary tract symptoms (LUTS) to objective voiding parameters measured during the UroCuff Test, a non-invasive pressure flow study (PFS), in men presenting with LUTS attributed to benign prostatic hyperplasia (BPH). MATERIALS AND METHODS: This is an expanded subpopulation analysis of a previously reported group of 50,680 men with LUTS, which depicted increased disease progression as men age. During the UroCuff Test, investigators optionally provided the International Prostate Symptom Score (IPSS). Variables were analyzed using descriptive statistics, pairwise correlation coefficients between variables and a multivariable linear regression model fit for IPSS as a continuous outcome. RESULTS: IPSS data are available for 1077 patients. Compared to the 50,680 group, men in this subpopulation are similar in age but overall have improved mean values for voided volume (VV), maximum flow rate (Qmax), and less advanced bladder disease by UroCuff quadrant. IPSS has highly statistically significant (p < 0.001), but weak correlations with Qmax, VV, post-void residual volume (PVR) and UroCuff quadrant, with correlation coefficients (absolute values) of 0.212, 0.174, 0.151, 0.159, respectively. Multivariable linear regression analysis stratified by UroCuff quadrant demonstrate that increased age and high VV are associated with decreased IPSS, while high PVR is associated with increased IPSS. These relationships become weaker as patients experience increasing disease progression. CONCLUSION: Since self-reported urological symptoms are only weakly correlated with objective voiding parameters, LUTS diagnosis using IPSS alone is insufficient to create diagnostic certainty. Optimal clinical management of male LUTS depends on a thorough evaluation of both symptoms and voiding parameters.

A systematic review and meta-analysis of otorhinolaryngological manifestations of coronavirus disease 2019 in paediatric patients.

BACKGROUND: This meta-analysis provides a quantitative measure of the otorhinolaryngological manifestations of coronavirus disease 2019 in children. METHODS: A structured literature review was carried out using PubMed, Embase and Cochrane Central, employing pertinent search terms. The statistical analysis was performed using Stata version 14.2 software, and the analysed data were expressed as the pooled prevalence of the symptoms with 95 per cent confidence intervals. RESULTS: The commonest symptoms noted were cough (38 per cent (95 per cent confidence interval = 33-42; I2 = 97.5 per cent)), sore throat (12 per cent (95 per cent confidence interval =10-14; I2 = 93.7 per cent)), and nasal discharge (15 per cent (95 per cent confidence interval = 12-19; I2 = 96.9 per cent)). Anosmia and taste disturbances showed a pooled prevalence of 8 per cent each. Hearing loss, vertigo and hoarseness were rarely reported. CONCLUSION: Cough, sore throat and nasal discharge were the commonest otorhinolaryngological symptoms in paediatric patients with coronavirus disease 2019. Compared with adults, anosmia and taste disturbances were infrequently reported in children.

Bilateral ptosis: An unusual presentation of mid brain tuberculoma.

Central nervous system tuberculoma can have different clinical manifestations like headache, seizures, papilledema or other signs of raised intracranial pressure depending up on the site and number of tuberculoma. We report a case of 56 year old female reported with history of bilateral asymmetric ptosis of one month duration,with no other neurological defecit. Magnetic resonance imaging (MRI) brain revealed well defined ring enhancing lesion in the medial aspect of left hemi midbrain with diffuse disproportionate perilessional edema. Contrast Enhanced Computed Tomogram (CECT) of chest and abdomen revealed features of disseminated tuberculosis. She was diagnosed as a case of disseminated tuberculosis and started on antitubercular therapy with steroids and the ptosis almost resolved after 01 month of antitubercular therapy. Our case report is unique in the sense that only few cases of midbrain tuberculoma causing occulomotor abnormalities are reported in literature.

Noninvasive Pressure Flow Studies in the Evaluation of Men with Lower Urinary Tract Symptoms Secondary to Benign Prostatic Hyperplasia: A Review of 50,000 Patients.

PURPOSE: The UroCuff® Test is a noninvasive pressure flow study used to manage men with lower urinary tract symptoms. UroCuff Tests were performed on men with lower urinary tract symptoms to evaluate voiding characteristics and quantify changes in urodynamic parameters with age. MATERIALS AND METHODS: This cross-sectional study included all UroCuff Tests performed at 103 urology practices in the U.S. Tests were de-identified prior to collection and analysis. Inclusion criteria required initial pressure flow study with subsequent tests excluded, voided volume 50 ml or greater, at least 1 cuff inflation and patient age greater than 20 years. Pressure, maximum flow rate, flow rate efficiency (maximum flow rate/Pcuff), voided volume and post-void residual were plotted by age and stratified by Newcastle Noninvasive Nomogram category. RESULTS: A total of 50,680 patients 20 to 100 years old (median age 66.0) met inclusion criteria. Median Pcuff was 144.3 cmH2O and 60.8% of patients were categorized in the obstructed or high pressure/high flow Newcastle Noninvasive Nomogram quadrants. Median maximum flow rate was 10.9 ml per second and 55.8% had maximum flow rate greater than 10 ml per second. Median voided volume and post-void residual were 219.0 and 75.0 ml, respectively. All measures deteriorated with age (p <0.0001). Pcuff reflects the compensated/decompensated bladder function lifecycle. Values initially increased and reached peak pressure at age 62, then decreased by approximately 0.96 cmH2O per year until age 90. CONCLUSIONS: This study demonstrates that symptomatic patients enter urological practices at different urodynamic stages of bladder function and outlet obstruction, that Pcuff, maximum flow rate, voided volume, flow rate efficiency and post-void residual deteriorate with age, and that UroCuff is a sensitive evaluation of bladder performance.

Profile of burn sepsis challenges and outcome in an exclusive children's hospital in Chennai, India.

A group of 273 paediatric patients admitted to Kanchi Kamakoti Childs Trust Hospital Burn Unit, Chennai, India between the years 2004 to 2010 were analysed retrospectively. Of these, 89 were suffering from sepsis and septic shock and 15 died. Strict adherence to antibiotic administration and to the Paediatric Intensive Care Unit (PICU) and management protocol improved the outcome, especially in 2009 and 2010.

Steroid-unresponsive hypereosinophilic syndrome.

Hypereosinophilic syndrome in children is rare and is characterised by sustained over-production of eosinophils. An 11-year-old boy was diagnosed with hypereosinophilic syndrome as per standard criteria. He was treated initially with intravenous methylprednisolone, followed by oral prednisolone, to which he showed a limited response. The highest absolute eosinophil count was 27.0×10(9)/L. He was commenced on imatinib mesylate but, because of no response, he was switched to hydroxyurea combined with low-dose prednisolone to which he showed improvement with decreasing levels of eosinophils.

Macrophage activation syndrome: a rare complication of incomplete Kawasaki disease.

Macrophage activation syndrome in rheumatological disorders is rare. A 3-year-old girl with incomplete Kawasaki disease complicated by macrophage activation syndrome is reported.

Profile of children abused by burning.

In an analysis of paediatric burn admissions to a hospital in India during the years 1992-2007, 9.3% of burn injuries were found to be secondary to abuse. These had valid documented evidence and child neglect was excluded. This incidence of child abuse has been on the rise in the last seven years and was more evident due to careful investigation by a team comprising a plastic surgeon, a paediatrician, a legal expert, a psychologist, and a social worker. As with the incidence reported by many other researchers, most of the injuries were caused by scalding.

Core-modified hexaphyrins; characterization of two- and four-ring inverted 26 pi aromatic macrocycles.

[reaction: see text] Synthesis and structural characterization of aromatic core-modified 26 pi hexaphyrin analogues are reported.

Prognostic significance of positive surgical margins in patients with extraprostatic carcinoma after radical prostatectomy.

BACKGROUND: A significant number of prostate adenocarcinoma patients undergoing radical prostatectomy are found to have microscopic extraprostatic disease extension. A majority of these patients have focal extraprostatic extension limited to one or both sides of the prostate. In addition, positive surgical margins are a common pathologic finding in this patient subgroup. In the current study, the authors evaluated the impact of positive surgical margins as an independent predictive factor for prostate specific antigen (PSA) progression in patients with pT3a/b N0M0 carcinoma. METHODS: The Mayo Clinic prostate cancer registry list provided 1202 patients with pT3a/b NO prostate carcinoma (no seminal vesicle or regional lymph node involvement) who underwent a radical prostatectomy between 1987-1995. To reduce confounding variables, patients who received preoperative therapy or adjuvant therapy were excluded, resulting in 842 patients who were eligible for analysis. RESULTS: A total of 354 patients (42%) had > or = 1 positive surgical margins whereas 488 patients (58%) demonstrated no margin involvement. The sites of margin positivity were as follows: apex (n = 163), base (n = 47), posterior prostate (n = 227), and anterior prostate (n = 11). A total of 111 patients had > or = 2 positive surgical margins. The 5-year survival free of clinical recurrence and/or biochemical failure (postoperative PSA level > 0.2 ng/mL) for patients with no positive surgical margins was 76% and was 65% for patients with 1 positive surgical margin (P = 0.0001). There was no significant difference in biochemical disease progression between patients with 1 versus those with > or = 2 surgical margins (65% vs. 62%). Multivariate analysis revealed that positive surgical margins were a significant predictor (P = 0.0017) of clinical disease recurrence and biochemical failure (relative risk, 1.55; 95% confidence interval, 1.18-2.04) after controlling for preoperative PSA, Gleason score, and DNA ploidy. CONCLUSIONS: In the current study, positive surgical margins were found to be a significant predictor of disease recurrence in patients with pT3a/b NO prostate carcinoma, a finding that is independent of PSA, Gleason score, and DNA ploidy. The benefit of adjuvant therapy in optimizing recurrence-free survival remains to be tested.

Porphyrins in photodynamic therapy - a search for ideal photosensitizers.

The utility of light as a therapeutic agent can be traced back over thousands of years when it was used in Ancient Egypt, India and China to treat a variety of skin diseases like psoriasis, vitiligo, rickets, cancer and psychosis. The isolation of porphyrins and their inherent tumor localizing properties coupled with its ability to generate reactive singlet oxygen when activated by light of particular wavelength which in turn results in cytotoxicity led to the emergence of a new modality namely, photodynamic therapy (PDT) as a therapeutic tool. The higher degree of selectivity offered by this modality and fewer side effects when compared to chemotherapy and radiotherapy has prompted the researchers around the globe to generate new photosensitizers. Porphyrins and expanded porphyrins are one class of molecules under intense investigation due to their photosensitizing ability for PDT application. Expanded porphyrins result from the expansion of the phi electron conjugation by increasing the number of heterocyclic rings or bridging carbons of the existing porphyrin framework. These chromophores show strong absorptions in the red region (650-800 nm) compared to that of normal 18phi porphyrins. The strong absorption of light by a water soluble nontoxic photosensitizing molecule in the therapeutic window resulting in maximum penetration of light into the tissues coupled with high singlet oxygen production will conceptualize an ideal photosensitizer. This review highlights various porphyrinoid sensitizers reported till date and their photosensitizing ability both in vitro and in vivo studies. Furthermore, the urgent need for developing ideal photosensitizer for PDT will also be highlighted.