Childhood and adolescent obesity are growing global health concerns, with genetic factors playing an important role. Despite the increasing prevalence of obesity in India, monogenic obesity remains underdiagnosed. We report 2 cases of early-onset morbid obesity due to melanocortin-4 receptor (MC4R) gene mutation. Case 1 was a 5-year-old boy who presented with severe hyperphagia and rapid weight gain since infancy. Case 2 was a 12-year-old girl who presented with progressive obesity, hyperphagia, and bilateral genu varum. Both patients exhibited severe insulin resistance with no syndromic stigmata. Genetic analysis confirmed a homozygous MC4R mutation in both cases. They were managed with a multidisciplinary approach that included dietary modification, structured physical activity, and pharmacotherapy using the glucagon-like peptide-1 analog liraglutide and metformin. Both cases showed a satisfactory response to liraglutide. These case reports highlight the point at which monogenic obesity can be clinically suspected and distinguished from syndromic obesity. Moreover, they underscore the role of genetic testing for monogenic obesity and the targeted therapies in its management.

Parenting Factors and Child Obesity: A Study Among Preschoolers in Selangor, Malaysia Introduction Child obesity is a pressing global concern. In Malaysia, the rates of child obesity have risen significantly over recent decades, with 5.6% of children under the age of five being categorized as overweight or obese. Children's behavior is influenced by their home environment, which includes both physical and social aspects such as parental behavioral models, parenting styles, practices, beliefs, and societal norms. However, there is a scarcity of data on the prevalence of child obesity and its relationship with parental factors. This research set out to explore the link between parenting styles, parental physical activity, dietary habits, body image perception, screen time, and child obesity. Methods A survey using a quantitative approach was conducted among preschoolers in Selangor to test the proposed relationships between these factors. Data were gathered from 354 preschool students in Selangor. This study used a multi-stage sampling technique. In the multi-stage sampling technique, the researcher used a series of sampling frames by developing population strata and then selected using purposive sampling method. Results The analysis was carried out using SPSS version 26 and Smart PLS version 4.0. The direct effect analysis revealed that parenting styles (p = 0.000), along with parental dietary habits and body image perception (p=0.001), were significantly associated with child obesity. In contrast, parental physical activity (p = 0.167) and screen time (p = 0.739) did not show a significant relationship with childhood obesity. Conclusions The study's outcomes can assist healthcare practitioners in understanding and providing substantial evidence of the significant relationship between parenting styles, dietary practices, body image perception, and child obesity.

Objective: Recessive variants in the PINK1 gene are known causes of early-onset Parkinson’s disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson’s disease (PARK-PINK1) mutations. Methods: We conducted a retrospective chart review of the demographic, clinical and genetic details of patients from our database carrying biallelic PINK1 variants. Results: A total of 7 patients whose median age at onset was 33 years (range: 20–49) were recruited. All had asymmetrical onset, tremors were present in 4 patients, abnormal posturing was present in 2 patients, and slowness was present in 1 patient. The parkinsonism phenotype was noted in 6 patients (with dystonia in four) and isolated dystonia in one. Among the 6 patients with parkinsonism, five had rest tremors, all had good levodopa responses, and four had motor fluctuations with choreiform dyskinesia. Exome sequencing revealed biallelic pathogenic/likely pathogenic variants, five of which were novel. Conclusion PARK-PINK1 presents as an EOPD with tremor-predominant phenotype, good levodopa-responsiveness, early motor fluctuation and dyskinesia. We describe five novel variants in PINK1 gene.

Purpose: To evaluate the clinical presentation, management, and outcome of eyes with an inadvertent globe perforation during peribulbar or retrobulbar block. Methods: This retrospective study evaluated the eyes which had an accidental globe perforation during local ocular anesthesia from 2012 to 2020. The patients were divided into three groups: group 1, Clear media with no rhegmatogenous retinal detachment (RRD); group 2, significant vitreous hemorrhage (VH) precluding the retinal view without RRD; and group 3, RRD with/without VH. Results: Twenty-five patients were included in the study. The mean axial length (AL) was 24.7 ± 2.7 mm (range, 20.9–31.2 mm). The most common presenting feature was VH (n = 14). The treatment included retinal laser barrage (n = 7) and vitrectomy (n = 17). Retinal breaks were identified in all the eyes (total breaks = 37). The mean presenting best-corrected visual acuity in groups 1, 2, and 3 were logarithm of the minimum angle of resolution 0.79 ± 0.73, 1.82 ± 0.78, and 2.13 ± 0.59 respectively. All the treated patients had an attached retina at the last follow-up. The mean final best-corrected visual acuity for each group was logarithm of the minimum angle of resolution 0.59 ± 0.79, 0.48 ± 0.26, and 1.25 ± 0.64, respectively (p = 0.006). The development of RRD was associated with a larger AL (p = 0.015); while the development of significant VH associated with the superior location of the perforation (p = 0.015), late recognition of the perforation (p = 0.004), and multiple perforations (p = 0.015). Conclusions Early recognition and intervention in eyes with an inadvertent perforation can lead to a good outcome. Eyes with a longer AL, superior, and multiple perforations are at higher risk of developing complications like RRD and VH. Complications like RRD, macular injury, and vascular occlusion are risk factors for poor prognosis.

Methods: We conducted a retrospective analysis of 288 patients (246 for final analysis) who underwent MSTS between 2005–2015. Data collected were demographics and peri/postoperative clinical and radiological features. Early and late radiological AsCF were defined as presentation before and after 3 months, respectively. We analyzed patients with AsCF for risk factors and survival duration by performing competing risk regression analyses where AsCF was the event of interest, with SF and death as competing events. Results: We observed AsCF in 41/246 patients (16.7%). The mean time to onset of AsCF after MSTS was 2 months (range, 1–9 months). Median survival of patients with AsCF was 20 and 41 months for early and late failures, respectively. Early AsCF accounted for 80.5% of cases, while late AsCF accounted for 19.5%. The commonest radiologically detectable AsCF mechanism was angular deformity (increase in kyphus) in 29 patients. Increasing age (p<0.02) and primary breast (13/41, 31.7%) (p<0.01) tumors were associated with higher AsCF rates. There was a non-significant trend towards AsCF in patients with a spinal instability neoplastic score ≥7, instrumentation across junctional regions, and construct lengths of 6–9 levels. None of the patients with AsCF underwent revision surgery. Conclusions AsCF after MSTS is a distinct entity. Most patients with early AsCF did not require intervention. Patients who survived and maintained ambulation for longer periods had late failure. Increasing age and tumors with a better prognosis have a higher likelihood of developing AsCF. AsCF is not necessarily an indication for aggressive/urgent intervention.

INTRODUCTIONThis study aimed to analyse the concordance rate, sensitivity, specificity, positive predictive value (PPV) and negative predictive value of core needle biopsy (CNB) and subsequent surgical specimen (SS) in assessing levels of oestrogen receptor (ER), progesterone receptor (PgR) and human epidermal growth factor receptor 2 (HER2/neu). It also evaluated the revised American Society of Clinical Oncology/College of American Pathologists (ASCO/CAP) guidelines for ER/PgR positivity.

METHODSWe analysed the breast cancer database of KK Women's and Children's Hospital, Singapore, from 1 June 2005 to 30 December 2012. Invasive breast cancer patients who had CNB and subsequent SS were included.

RESULTSA total of 560 patients were included. The concordance of ER, PgR and HER2/neu positivity between CNB and SS was 96.1%, 89.1% and 96.8%, respectively. When the 'ER ≥ 10% positive' group was compared with the 'ER ≥ 1% positive' group, specificity increased from 79.7% to 92.5% and PPV increased from 93.9% to 97.5%. When the 'PgR ≥ 10% positive' group was compared with the 'PgR ≥ 1% positive' group, specificity increased from 84.2% to 89.3% and PPV improved from 89.7% to 92.9%. The revised ASCO/CAP guidelines decreased discordant results by > 50% for ER and by 18.2% for PgR.

CONCLUSIONCNB has high concordance with SS in the evaluation of the molecular profile of invasive breast cancer. Thus, molecular evaluation does not need to be repeated with SS except for ER-, PgR- and HER2/neu-negative CNB results. The revised ASCO/CAP guidelines resulted in more precise ER and PgR status on CNB.

Automation ; Biopsy, Large-Core Needle ; Breast Neoplasms ; diagnosis ; pathology ; Female ; Humans ; Immunohistochemistry ; Middle Aged ; Predictive Value of Tests ; Receptor, ErbB-2 ; metabolism ; Receptors, Estrogen ; metabolism ; Receptors, Progesterone ; metabolism ; Sensitivity and Specificity ; Singapore

No abstract available.
Humans ; Lymphoma, T-Cell* ; T-Lymphocytes* ; Young Adult*

STUDY DESIGN: Cross-sectional study. PURPOSE: The aim of the study was to determine relationship between the degrees of radiologically demonstrated anatomical lumbar canal stenosis using magnetic resonance imaging (MRI) and its correlation with the patient's disability level, using the Oswestry Disability Index (ODI). OVERVIEW OF LITERATURE: The relationship between the imaging studies and clinical symptoms has been uncertain in patients suffering from symptomatic lumbar canal stenosis. There is a limited number of studies which correlates the degree of stenosis with simple reproducible scoring methods. METHODS: Fifty patients were selected from 350 patients who fulfilled the inclusion criteria. The patients answered the national-language translated form of ODI. The ratio of disability was interpreted, and the patients were grouped accordingly. They were subjected to MRI; and the anteroposterior diameters of the lumbar intervertebral disc spaces and the thecal sac cross sectional area were measured. Comparison was performed between the subdivisions of the degree of lumbar canal stenosis, based on the following: anteroposterior diameter (three groups: normal, relative stenosis and absolute stenosis); subdivisions of the degree of central canal stenosis, based on the thecal sac cross-sectional area, measured on axial views (three groups: normal, moderately stenotic and severely stenotic); and the ODI outcome, which was also presented in 20 percentiles. RESULTS: No significant correlation was established between the radiologically depicted anatomical lumbar stenosis and the Oswestry Disability scores. CONCLUSIONS: Magnetic resonance imaging alone should not be considered in isolation when assessing and treating patients diagnosed with lumbar canal stenosis.
Constriction, Pathologic* ; Cross-Sectional Studies ; Humans ; Intervertebral Disc ; Low Back Pain ; Lumbar Vertebrae ; Magnetic Resonance Imaging* ; Methods ; Observational Study* ; Radiculopathy ; Research Design

No abstract available.