The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance.

Lysinuric protein intolerance (LPI) is an inborn metabolic error caused by cationic amino acid transport defects. The disease has a significant degree of phenotypic variation, with no confirmed genotype-phenotype correlation. Because it presents with symptoms similar to far more common diseases, the diagnosis is often missed, resulting in increased morbidity and mortality. This case series describes three examples of LPI with pulmonary, neurological, and immunological manifestations, emphasising the importance of keeping this disorder on the differential list. Appropriate metabolic and genetic testing is important in providing the correct diagnosis and timely care in such cases.

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.

Iron deficiency in proteinuric children with nephrotic syndrome: A cross-sectional pilot study.

Massive proteinuria in nephrotic syndrome causes depletion of various proteins. Iron deficiency can occur due to urinary loss of iron, transferrin, and soluble transferrin receptors. We conducted this cross-sectional study of 52 children with proteinuric nephrotic syndrome, aged 1-12 years (mean 7.1±2.7 years). Hemoglobin (Hb), RBC indices (MCV, MCH, MCHC), percentage of hypochromic RBCs (Hypo-He), reticulocyte hemoglobin content (Ret-He), and serum ferritin were examined. Seven (13%) patients had iron deficiency anemia and another 10 (19%) exhibited iron deficiency. A higher proportion of children with steroid-resistant disease had anemia than did steroid-sensitive children (P=0.076). Thus, children with nephrotic syndrome may have iron deficiency (32.7%), which needs to be screened.

The t(8;14)(q24.1;q32) and its variant translocations: A study of 34 cases.

BACKGROUND: The t(8;14)(q24.1;q32) and its variants - the t(2;8)(p12;q24.1) and t(8;22)(q24.1;q11.2) are associated with B-cell neoplasia and result in MYC/immunoglobulin (IG) gene rearrangement. PATIENTS AND METHODS: We correlated the cytogenetic, molecular and clinico-pathological findings of patients with 8q24 translocations seen in the Department of Haematology, Christian Medical College, Vellore, from January 2003 to December 2015. RESULTS: There were 34 patients with 8q24 translocations (31, ALL and three myeloma). The t(8;14) was seen in 25 patients, t(8;22) in seven and t(2;8) in two. The salient findings were as follows: 85% males; 79% adults, median age 37 years; L3 morphology in 61%; mature B immunophenotype in 77%; extra-medullary disease in 41%; additional abnormalities in 28 (85%), notably, structural abnormalities of chromosome 1q (41%) and 13q (9%) and monosomy 13 (15%); complex karyotypes in 68%. There were two double-hit lymphoma/leukemia, one with a t(14;18)(q32;q21) and the other with a t(3;14)(q27;q11.2), associated with nodal high grade B cell lymphoma and dermal leukemic infiltrates respectively. Only 13 samples were processed for DNA PCR and all these samples were positive for MYC-IgH (c-gamma type) rearrangement. Only in one patient, in addition to c-gamma, c-alpha rearrangement was also detected. CONCLUSION: The frequency (1.7%) and distribution of these translocations in our series and the association with 1q and 13q abnormalities is similar to the literature. Trisomies 7 and 12 were seen in less than 10% of our patients.

A contemporary analysis of the ability of preoperative serum CA-125 to predict primary cytoreductive outcome in patients with advanced ovarian, tubal and peritoneal carcinoma.

OBJECTIVE: We previously reported that preoperative CA-125 may predict primary cytoreductive outcome in patients with stage III ovarian carcinoma (OC). The objective of this study was to perform a contemporary analysis of the ability of CA-125 to predict cytoreductive outcome in advanced OC since our programmatic change in surgical approach that currently incorporates the utilization of extensive upper abdominal procedures, as needed, to achieve maximal cytoreduction. METHODS: We reviewed the records of all patients with advanced ovarian, tubal or peritoneal carcinoma who underwent primary cytoreduction at our institution between 1/01 and 4/05. RESULTS: The study cohort included 277 patients. Primary disease sites were: ovary, 232 (84%); tubal, 9 (3%); and peritoneum, 36 (13%). Stages were: IIIA, 6 (2%); IIIB, 12 (4%); IIIC, 215 (78%); and IV, 44 (16%). Tumor grades were: grade 1, 6 (2%); grade 2, 30 (11%); grade 3, 233 (84%), and undifferentiated, 8 (3%). Cytoreductive outcomes were: no gross residual disease (RD), 68 (25%); cm RD, 56 (20%). There was no threshold CA-125 level that accurately predicted cytoreductive outcome. However, with CA-125 values >500 U/mL, 50% (57/113) of patients required extensive upper abdominal surgery to achieve RD 500 U/mL, extensive upper abdominal procedures were necessary in 50% of cases to achieve residual disease

Nomogram for survival after primary surgery for bulky stage IIIC ovarian carcinoma.

OBJECTIVE: Nomograms have been developed for numerous malignancies to predict a specific individual's probability of long-term survival based on known prognostic factors. To date, only one prediction model has been reported for patients with epithelial ovarian carcinoma (EOC). The objective of this study was to develop a more accurate survival nomogram for patients with bulky stage IIIC EOC. PATIENTS AND METHODS: Nomogram predictor variables included age, tumor grade, histologic type, preoperative platelet count, ascites, and residual disease after primary cytoreduction. Disease-specific survival was estimated by the Kaplan-Meier method. Cox proportional hazards regression was used for multivariate analysis, which was the basis for the nomogram. The concordance index was used as an accuracy measure with bootstrapping to correct for optimistic bias. RESULTS: A total of 424 evaluable patients with bulky stage IIIC EOC underwent primary surgery at our institution during the study period of 1/89 to 12/03. All patients received postoperative platinum-based systemic chemotherapy. EOC-specific survival at 5 years was 51%. Using the six predictor variables, a nomogram was constructed and internally validated using bootstrapping. It was shown to have excellent calibration with a bootstrap corrected concordance index of 0.67, which was more accurate in predicting survival at this stage than the previously published model (concordance index=0.53). CONCLUSION: Utilizing six readily accessible predictor variables, our nomogram more accurately predicted 5-year disease-specific survival for bulky stage IIIC EOC than the previously published model. This tool may be useful for patient counseling, determination of clinical trial eligibility, and postoperative management.