Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report.

Spinal muscular atrophy (SMA) indicates a set of inherited autosomal recessive genetic disorders, where, specifically, the anterior horn cell motor neurons in the brain and spinal cord are affected, leading to a severe form of hypotonia and muscle weakness. The incidence is exceptionally rare, commonly manifesting as slowly progressive muscular weakness and atrophy of lower limbs. As per our existing knowledge, this is the first case of SMA associated with hyperlordosis in a patient. Hyperlordosis is a deformity in spinal curvature characterized by an excessive forward spinal curve in the region of the lower back, forming the characteristic C-shape curvature in the lumbar region, just above the buttocks. Parents brought an 11-year-old male child with complaints of inability to get up from a sitting position along with difficulty in walking for the past six months. Upon physical examination, deep tendon reflexes were absent; there was severe hyperlordosis, proximal limb weakness, and notable hypotonia. In our study, we aim to understand the clinical presentation, impact, and association of hyperlordosis in a child diagnosed with SMA. This case report describes the complaints and successful diagnosis of a patient of survivor motor neuron (SMN) gene-related SMA along with severe hyperlordosis backed by evidences of electrophysiology and neuropathology. However, a complete cure and normal lifestyle are not possible due to the lack of affordable and easily accessible therapies.

Rehabilitation Engineering: A Narrative Review on Recent Advances in Mobility Aids in India.

Mobility has been characterized as the capacity to move across an environment safely, pleasantly, elegantly, and autonomously. India's current population is 1.4 billion, out of which 2.3%, i.e., 32 million people, are suffering from some kind of disability. With the rise in the geriatric population, the incidence of non-communicable and communicable diseases also rises and presents the risk of disorders that may progress to disability. People often neglect their disability and learn to live with it, even when most of them can use rehabilitation programs in conjunction with various mobility aids. Affordable access to adequate healthcare and assistive devices is limited, contributing to the challenges faced by disabled adults. Despite the potential for many disabled individuals to engage in productive work, their employment rates remain significantly lower. Mobility aids can provide significant benefits to individuals affected by a range of medical conditions, including arthritis, cerebral palsy, developmental disabilities, diabetic ulcers and wounds, fractures or broken bones, injuries, and walking impairments resulting from brain injury or stroke. Each person is different and may require help in a certain way for their disability, so choosing the most appropriate aid is crucial for the individual's well-being. Commonly used mobility aids are canes, walking sticks, walkers, and wheelchairs, with prostheses being used less commonly. With the advent of techniques such as state-of-the-art 3D printing and challenging surgeries, various Indian tech companies, along with non-governmental organizations (NGOs), have brought about many significant changes in the world of prosthesis by making it better, affordable, and accessible.

Is systematic prostate biopsy an overkill in metastatic prostate carcinoma ? A prospective validation.

PURPOSE: To assess the efficacy of 2-core prostate biopsy in advanced prostate cancer patients. This included a retrospective analysis of 12-core prostate biopsies and a prospective validation that a reduced number of cores are sufficient for histopathological diagnosis. METHODS: The first phase analyzed retrospective data from 12-core prostate biopsies between January 2013 and 2018. In the second phase, from January 2018 to January 2022, in a prospective setting, patients with PSA > 75 ng/dl underwent bone scans first. Those with positive bone scans underwent a 2-core biopsy. Cancer detection rate and complications were analyzed to validate the findings of the first phase. RESULTS: In the retrospective analysis, the number of positive cores in metastatic disease was 12 in 93 (73.8%), 11 in 14 (11.1%), and 10 in 7 (5.6%) patients. Using probability analysis, 94% of patients with metastasis could be detected with a single core and 97.8% with a 2-core biopsy. In the prospective analysis, 52 patients with PSA > 75 were enrolled. 3/52 (5.7%) patients had a negative bone scan. 49 were assigned for 2-core biopsy, out of which 48 (97.9%) had a positive result. One patient underwent a repeat 12-core biopsy. The prospective cohort's complications (p = 0.003) and pain score (p = 0.03) were lower compared to patients who underwent standard 12-core biopsies during phase one of the study period. CONCLUSION: A 2-core biopsy is adequate in almost all patients with metastatic prostate cancer with PSA > 75, and this avoids excess complications and morbidity associated with a systematic 12-core prostate biopsy.

Cell-Free Fetal Deoxyribonucleic Acid (cffDNA) Analysis as a Remarkable Method of Non-Invasive Prenatal Screening.

The cell-free fetal DNA (cffDNA) analysis for screening fetal genetic anomalies has increased dramatically since its commercialization in 2011 worldwide. In the early weeks of pregnancy, it offers a hassle-free, non-invasive procedure of antenatal screening. It guides and protects mothers from undergoing unwanted risk-laden invasive prenatal testing. cffDNA testing is accurate at detecting the abnormal fetus chromosome among a large pool population. Patau syndrome, Edward syndrome, and Down syndrome are currently being accurately screened by this method. Due to their sensitivity and specificity, they now have become the screening method of choice, approaching almost 100% in various studies with a large sample pool. The latest procedures to analyze cffDNA, like the new digital droplet polymerase chain reaction (ddPCR) and sophisticated next-generation sequencing (NGS), have increased detection rates with decreased analyzing time. The latest techniques make it possible to screen large numbers of the population with faster report generation. Screening for Rh incompatibility and its timely prevention is now more accessible and more accurate with the help of cffDNA analysis. The problem arises when we deviate from the primary disease and start testing for anomalies not intended to be screened by cffDNA in the first place. Fetal sex chromosome aneuploidy screening by cffDNA is one area where the test gives mixed results either due to differences in machinery, laboratory parameters, or human error. Other rare occurrences like trisomes, such as trisomy 7, trisomy 16, trisomy 22, and a few microdeletion syndromes are also being screened but with less accuracy. Like every technology, cffDNA analysis is not entirely free of criticism. Its high testing cost, potential to accurately prognosticate the gender of the developing fetus and absence of standard testing practices will become an issue as the test becomes routine worldwide.