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Indian Journal of Pathology &... Apr 2024Phosphaturic mesenchymal tumors (PMTs) are rare mesenchymal tumors, associated with long-standing, non-specific but often debilitating symptoms in the affected patients.... (Review)
Review
BACKGROUND
Phosphaturic mesenchymal tumors (PMTs) are rare mesenchymal tumors, associated with long-standing, non-specific but often debilitating symptoms in the affected patients. These tumors display characteristic histopathological features and in case, identified timely, can be a boon for patients, given an excision is completely curative.
AIMS
To evaluate the clinical and histopathological features of 10 PMTs, diagnosed at our institution, along with clinical outcomes in those patients.
MATERIALS AND METHODS
This was a retrospective study, wherein 10 PMTs, diagnosed from January 2013 to July 2022, were included.
RESULTS
The average age at the time of diagnosis was 40 years with an M:F ratio of 4:1. Clinical features included lumps, weakness, bone pain, difficulty in moving and walking, and pathologic fractures. The biochemical analysis showed normal serum calcium levels (average = 9.5 mg/dL), with low serum phosphorus (average = 2.2 mg/dL) and raised serum fibroblast growth factor 23 (FGF23) levels, in all the cases, wherever available. On histopathology, all tumors showed cells arranged in a hemangiopericytomatous pattern, including oval to short spindle forms. Multinucleate giant cells were present in nine tumors, and characteristic "grungy calcifications" was observed in eight tumors. Prominent pseudo cystic spaces were seen in eight tumors. A significant number of mitotic figures and tumor necrosis were not seen in any tumor. In five cases where follow-up was available, there was complete resolution of symptoms post-resection with no recurrence or metastasis. All those patients were free of disease until the last follow-up.
CONCLUSION
This constitutes the first largest comprehensive study on these rare tumors from our country. PMTs can be diagnosed based on certain histopathological features and correlation with clinicoradiological and biochemical findings. These are invariably benign neoplasms. Patients are relieved of their debilitating symptoms after adequate surgical tumor resection. Therefore, their correct and timely diagnosis is crucial.
Topics: Adult; Female; Humans; Male; Middle Aged; Young Adult; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Hypophosphatemia; Mesenchymoma; Phosphorus; Retrospective Studies; Treatment Outcome
PubMed: 38394416
DOI: 10.4103/ijpm.ijpm_295_23 -
BMJ Case Reports Dec 2023Scurvy, a disease caused by ascorbic acid (vitamin C) deficiency, is a rare disease in the modern world. We report a case of a boy in middle childhood, with a background...
Scurvy, a disease caused by ascorbic acid (vitamin C) deficiency, is a rare disease in the modern world. We report a case of a boy in middle childhood, with a background of autism, presenting bed-bound due to progressive bilateral lower limb pain, with concomitant rashes, bleeding gums and worsening lethargy. Detailed dietary history revealed a severely restricted diet. Physical examination showed bilateral lower limb ecchymoses, perifollicular hemorrhages, perifollicular hyperkeratosis and cockscrew hairs which are pathognomonic features of scurvy. A low serum ascorbic acid level confirmed the diagnosis. Therapy with oral vitamin C supplement and rehabilitation with multidisciplinary care was successful, with complete resolution of symptoms. This case emphasises the importance of thorough dietary evaluation in children with autism and food selectivity presenting with non-specific symptoms. Physician awareness of nutritional deficiencies avoids unnecessary extensive investigations and sub-specialty referrals and translates to savings in medical expenses.
Topics: Male; Humans; Child; Scurvy; Ascorbic Acid; Vitamins; Dietary Supplements; Walking
PubMed: 38160038
DOI: 10.1136/bcr-2023-258819 -
Sensors (Basel, Switzerland) Aug 2023Home-based rehabilitation programs for older adults have demonstrated effectiveness, desirability, and reduced burden. However, the feasibility and effectiveness of... (Randomized Controlled Trial)
Randomized Controlled Trial
Home-based rehabilitation programs for older adults have demonstrated effectiveness, desirability, and reduced burden. However, the feasibility and effectiveness of balance-intervention training delivered through traditional paper-versus novel smartphone-based methods is unknown. Therefore, the purpose of this study was to evaluate if a home-based balance-intervention program could equally improve balance performance when delivered via smartphone or paper among adults over the age of 65. A total of 31 older adults were randomized into either a paper or phone group and completed a 4-week asynchronous self-guided balance intervention across 12 sessions for approximately 30 min per session. Baseline, 4-week, and 8-week walking and standing balance evaluations were performed, with exercise duration and adherence recorded. Additional self-reported measures were collected regarding the enjoyment, usability, difficulty, and length of the exercise program. Twenty-nine participants completed the balance program and three assessments, with no group differences found for any outcome measure. Older adults demonstrated an approximately 0.06 m/s faster gait velocity and modified balance strategies during walking and standing conditions following the intervention protocol. Participants further self-reported similar enjoyment, difficulty, and exercise effectiveness. Results of this study demonstrated the potential to safely deliver home-based interventions as well as the feasibility and effectiveness of delivering balance intervention through a smartphone-based application.
Topics: Humans; Aged; Smartphone; Mobile Applications; Exercise; Gait; Records
PubMed: 37687907
DOI: 10.3390/s23177451 -
Nutrients Sep 2023Frailty is a biological syndrome that leads to a loss of physiological reserve, increasing susceptibility to adverse health events. In the Peruvian Amazon, the elderly... (Observational Study)
Observational Study
Frailty is a biological syndrome that leads to a loss of physiological reserve, increasing susceptibility to adverse health events. In the Peruvian Amazon, the elderly live with hardly any economic resources, presenting a caloric deficit that is related to functional and cognitive deterioration. Our objective was to identify the health needs of elderly people living in extreme poverty in Requena (Peru) by means of a geriatric assessment of the nutritional and functional spheres to design, in the future, a cooperation project appropriate to the needs detected. This is an observational, descriptive, and cross-sectional study. Sixty participants were included, and sociodemographic and functional status variables were analyzed using the MNA and Barthel scales and the Get Up and Go test. The mean age of the participants was 79 ± 6.67 (women 55% and men 45%), where 60% had frailty. A statistically significant relationship was found between the MNA scores and Barthel test. Eighty-five percent were malnourished or at risk and thirteen percent had total or moderate dependence. We conclude that the nutritional status of the elderly was deficient. The high degree of living alone in which they live forces them to maintain their independence and their walking stability is normal. The situation of frailty exceeds the national average, a situation that has repercussions for their quality of life. We found a statistically significant association between nutritional status, dependence, and frailty. The better-nourished elderly are less frail and less dependent.
Topics: Aged; Male; Humans; Female; Frailty; Nutritional Status; Cross-Sectional Studies; Peru; Quality of Life
PubMed: 37686872
DOI: 10.3390/nu15173840 -
The Yale Journal of Biology and Medicine Sep 2023Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal dysplasia. The hallmark features of SCT are disproportionate short stature,... (Review)
Review
Spondylocarpotarsal synostosis (SCT) syndrome is a very rare and severe form of skeletal dysplasia. The hallmark features of SCT are disproportionate short stature, scoliosis, fusion of carpal and tarsal bones, and clubfoot. Other common manifestations are cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Homozygous variants in are known to cause SCT. This study was aimed to investigate the phenotypic and genetic basis of unique presentation of SCT syndrome segregating in a consanguineous Pakistani family. Three of the four affected siblings evaluated had severe short stature, short trunk, short neck, kyphoscoliosis, pectus carinatum, and winged scapula. The subjects had difficulty in walking and gait problems and complained of knee pain and backache. Roentgenographic examination of the eldest patient revealed gross anomalies in the axial skeleton including thoracolumbar and cervical fusion of ribs, severe kyphoscoliosis, thoracic and lumbar lordosis, coxa valga, fusion of certain carpals and tarsals, and clinodactyly. The patients had normal faces and lacked other typical features of SCT like cleft palate, conductive and sensorineural hearing loss, joint stiffness, and dental enamel hypoplasia. Whole exome sequencing (WES) of two affected siblings led to the discovery of a rare stop-gain variant c.220C>T (p.(Gln74*)) in exon 1 of the gene. The variant was homozygous and segregated with the malformation in this family. This study reports extensive phenotypic variability in SCT and expands the mutation spectrum of .
Topics: Animals; Humans; Scoliosis; Cleft Palate; Consanguinity; Dental Enamel Hypoplasia; Phenotype; Filamins
PubMed: 37781000
DOI: 10.59249/UTCP9818 -
Cureus Dec 2023Benign acute childhood myositis (BACM) is a mild and self-limited sudden onset of lower extremity pain during or following recovery from a viral illness. It is...
Benign acute childhood myositis (BACM) is a mild and self-limited sudden onset of lower extremity pain during or following recovery from a viral illness. It is characterized by difficulty walking due to severe bilateral calf pain, which usually resolves in three days. It is typically appreciated during times of large influenza outbreaks and epidemics. The most severe complication can be rhabdomyolysis without proper treatment and can lead to renal damage and potential renal failure. There are limited reported cases of BACM and therefore no clear guidelines in the treatment or management of the condition. This case is unique in the sense that the patient had leg pain the entire month prior to presentation in the absence of trauma or injury, and it is believed that the pre-existing myalgia may have been exacerbated by an upper respiratory infection (URI) that started a few weeks after the leg pain onset. In addition, this patient's creatine kinase peaked at over 13,000 U/L, which is three to five times higher than the average of other reported children with this condition. The patient is a five-year-old male who presented to the emergency department with bilateral leg pain and difficulty ambulating. His guardian reported that the leg pain began one month prior to presentation and worsened to the point where he could no longer ambulate, following a fever and cough that began one week prior to presentation. A respiratory viral panel was positive for influenza B, and initial creatine kinase (CK) levels were greater than 10,000. A diagnosis of BACM was made, and supportive care was initiated. BACM is an infrequent complication following a viral infection that is typically treatable with hydration management and routine CK monitoring. Symptoms of BACM are usually limited to muscle pain and weakness, but it can progress to rhabdomyolysis and renal failure if not managed properly. It is therefore crucial that physicians monitor CK values daily until a downtrend is noticed and symptoms begin to resolve.
PubMed: 38283530
DOI: 10.7759/cureus.51171 -
Otolaryngology--head and Neck Surgery :... Nov 2023Management of tracheostomized patients typically involves a conventional external humidification system (CEHS). CEHS are noisy, negatively impact patient mobility, and...
OBJECTIVE
Management of tracheostomized patients typically involves a conventional external humidification system (CEHS). CEHS are noisy, negatively impact patient mobility, and increases costs. Additionally, they prevent phonation and the ability to cough. Alternatively, heat and moisture exchange (HME) devices have been used in laryngectomized patients. We present an institutional quality improvement project exploring the use and efficacy of an HME device following tracheostomy.
METHODS
Health care professionals and stakeholders from multiple disciplines were identified: otolaryngology, nursing, administration, case management, and speech-language pathology. The focus was on an otolaryngology acute care nursing unit. Protocols for product acquisition, nursing education, care flowcharts, and discharge planning were established. Efficacy was assessed by tracking patient pulmonary status, nursing notes, and questionnaires.
RESULTS
Seventy-one tracheostomized patients were enrolled. Two patients (2.8%) were unable to tolerate the HME. There were no complications from mucous plugging or respiratory distress. Eighty-nine percent of nursing staff surveyed preferred the use of an HME device over CEHS, particularly for ease of patient mobility. Additional favorable findings were patient satisfaction, cost savings, reduced noise, communication, and ease of discharge education and planning.
DISCUSSION
Replacing CEHS with HMEs provides distinct advantages, with a positive impact on patients, family members, and health care personnel. Resistance to changing from the traditional standard of care was alleviated with education, focused training, and positive outcomes.
IMPLICATIONS FOR PRACTICE
These data indicate that an HME device is safe and offers advantages to both patients and nurses over traditional CEHS.
Topics: Humans; Tracheostomy; Hot Temperature; Mobility Limitation; Dyspnea; Critical Care; Humidity; Respiration, Artificial
PubMed: 37161949
DOI: 10.1002/ohn.368 -
Sensors (Basel, Switzerland) Nov 2023Traffic flow analysis is essential to develop smart urban mobility solutions. Although numerous tools have been proposed, they employ only a small number of parameters....
Traffic flow analysis is essential to develop smart urban mobility solutions. Although numerous tools have been proposed, they employ only a small number of parameters. To overcome this limitation, an edge computing solution is proposed based on nine traffic parameters, namely, vehicle count, direction, speed, and type, flow, peak hour factor, density, time headway, and distance headway. The proposed low-cost solution is easy to deploy and maintain. The sensor node is comprised of a Raspberry Pi 4, Pi camera, Intel Movidius Neural Compute Stick 2, Xiaomi MI Power Bank, and Zong 4G Bolt+. Pre-trained models from the OpenVINO Toolkit are employed for vehicle detection and classification, and a centroid tracking algorithm is used to estimate vehicle speed. The measured traffic parameters are transmitted to the ThingSpeak cloud platform via 4G. The proposed solution was field-tested for one week (7 h/day), with approximately 10,000 vehicles per day. The count, classification, and speed accuracies obtained were 79.8%, 93.2%, and 82.9%, respectively. The sensor node can operate for approximately 8 h with a 10,000 mAh power bank and the required data bandwidth is 1.5 MB/h. The proposed edge computing solution overcomes the limitations of existing traffic monitoring systems and can work in hostile environments.
PubMed: 38067758
DOI: 10.3390/s23239385 -
Multiple Sclerosis and Related Disorders Feb 2024Multiple Sclerosis (MS) is among the most common reasons for disability in young adults. Mobility impairment, primarily related to gait and balance, is ranked as the... (Review)
Review
BACKGROUND
Multiple Sclerosis (MS) is among the most common reasons for disability in young adults. Mobility impairment, primarily related to gait and balance, is ranked as the preeminent concern among persons with MS (PwMS). Gait and balance dysfunction can directly affect the quality of life and activities of daily life in PwMS, hence the importance of effective treatment strategies. Previous studies have demonstrated the positive effect of various non-pharmacological rehabilitation methods, including physiotherapy and electrical stimulation, on gait and mobility in PwMS. Non-pharmacological methods can be tailored to the individual needs and abilities of each patient, allowing healthcare providers to create personalized training programs. Furthermore, these methods typically result in minimal or no side effects.
PURPOSE
This review provides a comprehensive overview of an array of non-pharmacological treatment approaches aimed at enhancing ambulatory performance in PwMS.
METHODS
We performed a narrative review of the original papers available in PubMed, investigating the effects of different nonmedical approaches on the gait and balance performance of the PwMS. Reviewed treatment approaches include "exercise, physical rehabilitation, dual-task (DT) rehabilitation, robot-assisted rehabilitation, virtual reality-assisted rehabilitation, game training, electrical stimulation devices, auditory stimulation, visual feedback, and shoe insoles".
RESULTS AND CONCLUSIONS
Eighty articles were meticulously reviewed. Our study highlights the positive effects of non-pharmacological interventions on patients' quality of life, reducing disability, fatigue, and muscle spasticity. While some methods, including exercise and physiotherapy, showed substantial promise, further research is needed to evaluate whether visual biofeedback and auditory stimulation are preferable over conventional approaches. Additionally, approaches such as functional electrical stimulation, non-invasive brain stimulation, and shoe insoles demonstrate substantial short-term benefits, prompting further investigation into their long-term effects. Non-pharmacological interventions can serve as a valuable complement to medication-based approaches.
Topics: Young Adult; Humans; Multiple Sclerosis; Quality of Life; Gait; Physical Therapy Modalities; Acoustic Stimulation
PubMed: 38211505
DOI: 10.1016/j.msard.2023.105415 -
Medicinski Glasnik : Official... Feb 2024Aim To assess our personal experience of a case of tuberculosis of the talus, and to provide an overview of the literature about the tuberculosis manifestations,...
Aim To assess our personal experience of a case of tuberculosis of the talus, and to provide an overview of the literature about the tuberculosis manifestations, including all its aspects: epidemiology, clinical and imaging presentation, and all the treatments available to the current state of knowledge. Methods We present our experience in a case of a 34-year-old patient, who came to our attention with difficulty in walking and pain due to a talar tuberculosis, with consequent bone disruption and reabsorption, and foot deformities. Results A tibiotalocalcaneal arthrodesis with retrograde nail and bone graft was performed after antibiotic therapy. Today, almost two years after the treatment, the patient can walk independently with no major limitations in everyday life. Conclusion Tibiotalocalcaneal arthrodesis with bone graft showed good functional results in this case study, with complete graft fusion and good functional and radiological outcomes.
PubMed: 38341675
DOI: 10.17392/1699-23