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1.
J Lesbian Stud ; : 1-16, 2024 Jul 03.
Article in English | MEDLINE | ID: mdl-38961676

ABSTRACT

This essay looks at, and compares, Hotel World by Ali Smith and Mrs. Dalloway by Virginia Woolf and attempts to understand the differences within both the formal and philosophical/political outlook of the two works. Presuming stream-of-consciousness as both a set of formal prosaic styles and a genre, the essay argues that the way the novels utilize formal style is indicative of their individual politics in counterintuitive ways. Furthermore, it argues that by looking at these two novels we can begin to map a lineage of queer stream-of-consciousness works and explore how those perspectives have changed over time.

2.
J Parasitol ; 110(4): 263-275, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38982636

ABSTRACT

Histomoniasis, caused by the protozoan, Histomonas meleagridis, is an economically important disease of turkeys, and it also affects several other species of domesticated and wild Galliformes, including chickens. Under natural conditions, the parasite is transmitted through eggs of a nematode, Heterakis gallinarum, that shares its hosts with Hi. meleagridis. The protozoan infects tissues of both male and female He. gallinarum and eventually is carried within the worm egg. Histomonas meleagridis more readily infects and develops in chickens, and the proximity of chicken farms is a major risk factor for outbreaks in turkeys. Chemoprophylaxis had controlled Hi. meleagridis in turkeys very successfully, but histomoniasis has recently reemerged in turkeys because anti-histomonal drugs are no longer permitted by the United States Food and Drug Administration because of the concerns for residual toxins in poultry meat. Horizontal transmission of the protozoan in the absence of worm eggs remains a mystery because the flagellate trophozoite excreted in the feces of turkeys is not viable for any length of time. A proposed resistant stage of the protozoan has not yet been conclusively demonstrated. Here we review the discovery of the protozoan and the current status of the disease and its control.


Subject(s)
Poultry Diseases , Protozoan Infections, Animal , Turkeys , Animals , Turkeys/parasitology , Poultry Diseases/parasitology , Poultry Diseases/history , Poultry Diseases/epidemiology , Poultry Diseases/transmission , Protozoan Infections, Animal/epidemiology , Protozoan Infections, Animal/parasitology , Protozoan Infections, Animal/history , Protozoan Infections, Animal/transmission , United States/epidemiology , History, 20th Century , Trichomonadida/isolation & purification , Female , Male , History, 21st Century
3.
Obes Res Clin Pract ; 2024 Jul 09.
Article in English | MEDLINE | ID: mdl-38987029

ABSTRACT

BACKGROUND: Smith Magenis Syndrome (SMS) is a rare genetic disorder caused by RAI1 haploinsufficiency. Obesity in people with SMS is believed partially due to dysfunction of the proximal melanocortin 4 receptor (MC4R) pathway. We therefore studied effects of treatment with the MC4R agonist setmelanotide on obesity and hunger, as well as metabolic, cardiac and safety, in individuals with SMS. METHODS: People with SMS received once-daily setmelanotide injections, with the dose titrated bi-weekly to a maximum of 3 mg over ∼1 month; and a full-dose treatment duration of 3mo. The primary outcome was percent change in body weight. Secondary outcomes included hunger, waist circumference, body composition, and safety. RESULTS: 12 individuals, ages 11-39 y, enrolled and 10 completed the full-dose treatment phase. Mean percent change in body weight at end-treatment was - 0.28 % [(95 % CI, -2.1 % to 1.5 %; n = 12; P = 0.66]. Participants experienced a significant decrease in total cholesterol associated with a significant decrease in HDL-cholesterol and a trend for lower LDL-cholesterol. Self-reported hunger was reduced at end-treatment (p = 0.011). All participants reported adverse events (AEs), most commonly injection-site reactions and skin hyperpigmentation. No AEs led to withdrawal or death. CONCLUSIONS: In this trial, setmelanotide did not significantly reduce body weight in participants with SMS. Participants reported significant differences in hunger, but such self-reports are difficult to interpret without a placebo-treated group. The changes in lipid profiles require further investigation. Results of this study do not suggest that dysfunction of the proximal MC4R pathway is the main etiology for obesity in people with SMS.

4.
J Arthroplasty ; 2024 Jun 03.
Article in English | MEDLINE | ID: mdl-38838961

ABSTRACT

BACKGROUND: The horizontal 'bikini' incision for direct anterior approach (DAA) total hip arthroplasty (THA) has gained popularity due to its early wound healing characteristics, however, the non-extensile nature of this approach may pose problems in treating early complications. This study sought to characterize the outcomes of early revision (< 90 days) in patients who underwent anterior hip arthroplasty utilizing either a traditional longitudinal incision or a horizontal (bikini) incision. METHODS: This retrospective study identified patients who underwent DAA primary THA with a subsequent DAA revision within 90 days. Patients were divided into two cohorts based on the orientation of their incision: either 'longitudinal incision' (in accordance with the Smith Peterson interval) or 'horizontal bikini incision' (in accordance with the hip flexion crease). RESULTS: There were 74 patients who underwent DAA revision arthroplasty within 90 days of primary arthroplasty; 65 had a longitudinal incision, and 9 had a horizontal (bikini) incision. In the longitudinal incision group, 2 patients (3.1%) required plastic surgery closure, and 11 patients (16.9%) required additional operations. Of the 9 bikini incision patients, 6 patients required the assistance of plastic surgery closure, and 7 patients required multiple orthopaedic operations. CONCLUSION: Our study suggests that a horizontal bikini incision is less forgiving in the early postoperative period if a more extensile exposure is needed for revision surgery, as measured by the need for plastic surgery and additional returns to the operating room. In our cohort, the longitudinal incision allowed for the management of early surgical complications with less morbidity.

5.
Adv Exp Med Biol ; 1441: 467-480, 2024.
Article in English | MEDLINE | ID: mdl-38884726

ABSTRACT

Although atrial septal defects (ASD) can be subdivided based on their anatomical location, an essential aspect of human genetics and genetic counseling is distinguishing between isolated and familiar cases without extracardiac features and syndromic cases with the co-occurrence of extracardiac abnormalities, such as developmental delay. Isolated or familial cases tend to show genetic alterations in genes related to important cardiac transcription factors and genes encoding for sarcomeric proteins. By contrast, the spectrum of genes with genetic alterations observed in syndromic cases is diverse. Currently, it points to different pathways and gene networks relevant to the dysregulation of cardiomyogenesis and ASD pathogenesis. Therefore, this chapter reflects the current knowledge and highlights stable associations observed in human genetics studies. It gives an overview of the different types of genetic alterations in these subtypes, including common associations based on genome-wide association studies (GWAS), and it highlights the most frequently observed syndromes associated with ASD pathogenesis.


Subject(s)
Genome-Wide Association Study , Heart Septal Defects, Atrial , Humans , Heart Septal Defects, Atrial/genetics , Genetic Predisposition to Disease/genetics , Mutation
6.
Adv Exp Med Biol ; 1441: 937-945, 2024.
Article in English | MEDLINE | ID: mdl-38884762

ABSTRACT

Hypoplastic left heart syndrome (HLHS) is a severe congenital cardiovascular malformation characterized by hypoplasia of the left ventricle, aorta, and other structures on the left side of the heart. The pathologic definition includes atresia or stenosis of both the aortic and mitral valves. Despite considerable progress in clinical and surgical management of HLHS, mortality and morbidity remain concerns. One barrier to progress in HLHS management is poor understanding of its cause. Several lines of evidence point to genetic origins of HLHS. First, some HLHS cases have been associated with cytogenetic abnormalities (e.g., Turner syndrome). Second, studies of family clustering of HLHS and related cardiovascular malformations have determined HLHS is heritable. Third, genomic regions that encode genes influencing the inheritance of HLHS have been identified. Taken together, these diverse studies provide strong evidence for genetic origins of HLHS and related cardiac phenotypes. However, using simple Mendelian inheritance models, identification of single genetic variants that "cause" HLHS has remained elusive, and in most cases, the genetic cause remains unknown. These results suggest that HLHS inheritance is complex rather than simple. The implication of this conclusion is that researchers must move beyond the expectation that a single disease-causing variant can be found. Utilization of complex models to analyze high-throughput genetic data requires careful consideration of study design.


Subject(s)
Hypoplastic Left Heart Syndrome , Humans , Genetic Predisposition to Disease/genetics , Hypoplastic Left Heart Syndrome/genetics , Phenotype
7.
Sensors (Basel) ; 24(12)2024 Jun 14.
Article in English | MEDLINE | ID: mdl-38931654

ABSTRACT

Conveyor belts serve as the primary mode of ore transportation in mineral processing plants. Feeders, comprised of shorter conveyors, regulate the material flow from silos to longer conveyor belts by adjusting their velocity. This velocity manipulation is facilitated by automatic controllers that gauge the material weight on the conveyor using scales. However, due to positioning constraints of these scales, a notable delay ensues between measurement and the adjustment of the feeder speed. This dead time poses a significant challenge in control design, aiming to prevent oscillations in material levels on the conveyor belt. This paper contributes in two key areas: firstly, through a simulation-based comparison of various control techniques addressing this issue across diverse scenarios; secondly, by implementing the Smith predictor solution in an operational plant and contrasting its performance with that of a single PID controller. Evaluation spans both the transient flow rate during step change setpoints and a month-long assessment. The experimental results reveal a notable increase in production by 355 t/h and a substantial reduction in flow rate oscillations on the conveyor belt, evidenced by a 55% decrease in the standard deviation.

8.
J Arthroplasty ; 2024 Jun 25.
Article in English | MEDLINE | ID: mdl-38936438

ABSTRACT

BACKGROUND: Revision total hip arthroplasty (rTHA) has traditionally been performed through the posterolateral approach (PA). Anterior-based approaches (AA) for rTHA are increasingly being utilized. The purpose of this study was to compare complications and survivorship from re-revision and reoperation after aseptic rTHA performed using an AA versus a PA. METHODS: We retrospectively reviewed patients who underwent aseptic rTHA either through an AA (Direct Anterior Approach [DAA], Anterior Based Muscle Sparing [ABMS]) or PA from January 2017 to December 2021. There were 116 patients who underwent AA-rTHA (DAA 50, ABMS 66) or PA-rTHA (n = 105). Patient demographics, complications, and postoperative outcomes were collected. RESULTS: The most common indication in both groups was aseptic loosening (n = 26, 22.4% AA, n = 28, 26.7% PA). Acetabular revision alone was most common in the AA group (n = 33, 28.4%), while both components were most commonly revised in the PA groups (n = 47, 44.8%). In all the AA-rTHA group, the index THA was performed through a PA in 51% of patients, while the PA-rTHA group had the index procedure performed via AA in 4.8%. There was no statistically significant difference in re-revision rate between the DAA, ABMS, or PL groups (9.55% versus 5.3% versus 11.4%, respectively, P = 0.11). The most common overall reason for re-revision was persistent instability, with no difference in incidence of post-operative hip dislocation (n = 4, 6.8% DAA, n = 3, 5.3%, n = 10, 9.5% PA; P = 0.31). CONCLUSIONS: This study demonstrates no difference in complication or re-revision survivorship after aseptic rTHA performed through a DAA, AMBS approach, or PA, nor between anterior or posterior-based approaches.

9.
AACE Clin Case Rep ; 10(3): 105-108, 2024.
Article in English | MEDLINE | ID: mdl-38799049

ABSTRACT

Background/Objective: Immune checkpoint inhibitors (ICI), including Programmed Cell Death 1, Programmed Cell Death Ligand 1, and Cytotoxic T-lymphocyte Associated Antigen 4 inhibitors, upregulate T-cell responses against tumor cells and are becoming a cornerstone in the treatment of various advanced solid and hematological cancers. Mulvihill-Smith Syndrome (MSS) is a rare genetic syndrome that has been associated with metabolic abnormalities and early-onset tumors, including malignancies. We report the first known case of ICI-induced hyponatremia attributable to syndrome of inappropriate antidiuretic hormone ADH release (SIADH) in a patient with MSS. Case Report: A 23-year-old female patient with MSS and hepatocellular carcinoma presented with recurrent hyponatremia. Assessment of fluid status and electrolytes revealed a euvolemic, hypotonic process consistent with SIADH shortly after initiating adjuvant therapy with atezolizumab, a Programmed Cell Death Ligand 1 inhibitor. Discussion: Endocrine etiologies for euvolemic hypotonic hyponatremia, including adrenal insufficiency and hypothyroidism, were excluded. The diagnosis of SIADH was confirmed based on electrolyte and osmolality studies. Sodium levels normalized with fluid restriction. Given the onset of hyponatremia 30 days after atezolizumab initiation, we posit that atezolizumab triggered severe hyponatremia due to SIADH. Conclusion: With the expanding utilization of ICIs, including in patients predisposed to malignancies such as MSS, vigilant monitoring for ICI-mediated electrolyte imbalances is crucial. Monitoring for hyponatremia and SIADH in the setting of ICI therapy is recommended.

10.
Chin Herb Med ; 16(2): 214-226, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38706830

ABSTRACT

Objective: Paris polyphylla var. yunnanensis, one of the important medicinal plant resources in Yunnan, China, usually takes 6-8 years to be harvested. Therefore, it is urgent to find a method that can not only shorten its growth years, but also improve its quality. In this study, we examined the effects of a combination treatment of arbuscular mycorrhizal fungi (AMF) and plant growth-promoting endophytes (PGPE) and drought stress on the accumulation of saponins in it. Methods: P. polyphylla var. yunnanensis was infected with a mixture of AMF and PGPE under drought stress. The content of saponins, as well as morphological, physiological, and biochemical indicators, were all measured. The UGTs gene related to saponin synthesis was obtained from transcriptome data by homologous comparison, which were used for RT-PCR and phylogenetic analysis. Results: Regardless of water, AMF treatment could infect the roots of P. polyphylla var. yunnanensis, however double inoculation with AMF and PGPE (AMF + PGPE) would reduce the infection rate of AMF. Plant height, aboveground and underground fresh weight did not differ significantly between the single inoculation AMF and the double inoculation treatment under different water conditions, but the inoculation treatment significantly increased the plant height of P. polyphylla var. yunnanensis compared to the non-inoculation treatment. Single inoculation with AMF considerably increased the net photosynthetic rate, stomatal conductance, and transpiration rate of P. polyphylla var. yunnanensis leaves under various water conditions, but double inoculation with AMF + PGPE greatly increased the intercellular CO2 concentration and chlorophyll fluorescence parameter (Fv/Fm). Under diverse water treatments, single inoculation AMF had the highest proline content, whereas double inoculation AMF + PGPE may greatly improve the amount of abscisic acid (ABA) and indoleacetic acid (IAA) compared to normal water under moderate drought. Double inoculation AMF + PGPE treatment improved the proportion of N, P, and K in the rhizome of P. polyphylla var. yunnanensis under various water conditions. Under moderate drought stress, AMF + PGPE significantly enhanced the contents of P. polyphylla var. yunnanensis saponins I, II, VII, and total saponins as compared to normal water circumstances. Farnesyl diphosphate synthase (FPPS), Geranyl pyrophosphate synthase (GPPS), Cycloartenol synthase (CAS), and Squalene epoxidase (SE1) were the genes that were significantly up-regulated at the same time. The amount of saponins was favorably linked with the expression of CAS, GPPS, and SE1. Saponin VI content and glycosyl transferase (UGT) 010922 gene expression were found to be substantially associated, as was saponin II content and UGT010935 gene expression. Conclusion: Under moderate drought, AMF + PGPE was more conducive to the increase of hormone content, nutrient absorption, and total saponin content in P. polyphylla var. yunnanensis, and AMF + PGPE could up regulate the expression of key genes and UGTs genes in one or more steroidal saponin synthesis pathways to varying degrees, thereby stimulating the synthesis and accumulation of steroidal saponins in the rhizome of P. polyphylla var. yunnanensis. The combination of AMF and PGPE inoculation, as well as adequate soil drought, reduced the buildup of saponins in P. polyphylla var. yunnanensis and increased its quality.

11.
Obes Res Clin Pract ; 18(2): 159-162, 2024.
Article in English | MEDLINE | ID: mdl-38582735

ABSTRACT

We present for the first-time efficacy and tolerability of GLP-1-RA (Semaglutide) in Smith-Kingsmore syndrome (SKS). SKS is a rare genetic disorder characterized by intellectual disability, macrocephaly, seizures and distinctive facial features due to MTOR gene mutation. We present a 22-year-old woman with mosaic SKS and severe obesity (Body Mass Index ≥40 kg/m²), treated with semaglutide. She achieved a 9 kg (7.44%) weight loss over 12 months without adverse effects.This case highlights semaglutide's potential in managing obesity in SKS patients, emphasizing the need for further research in this rare genetic disorder.


Subject(s)
Glucagon-Like Peptides , Humans , Female , Glucagon-Like Peptides/therapeutic use , Young Adult , Mutation , Weight Loss/drug effects , TOR Serine-Threonine Kinases , Intellectual Disability/drug therapy , Intellectual Disability/genetics , Obesity/drug therapy , Obesity/complications , Treatment Outcome , Body Mass Index , Obesity, Morbid
13.
Confl Health ; 18(Suppl 1): 31, 2024 Apr 15.
Article in English | MEDLINE | ID: mdl-38622721

ABSTRACT

BACKGROUND: Despite a long history of political discourse around refugee integration, it wasn't until 2016 that this issue emerged as a global political priority. Limited research has examined the evolution of policies of global actors around health service provision to refugees and how refugee integration into health systems came onto the global agenda. This study seeks to fill this gap. METHODS: Drawing on a document review of 20 peer-reviewed articles, 46 global policies and reports, and 18 semi-structured interviews with actors representing various bilateral, multilateral and non-governmental organizations involved with refugee health policy and funding, we analyze factors that have shaped the global policy priority of integration. We use the Shiffman and Smith Policy Framework on determinants of political priority to organize our findings. RESULTS: Several important factors generated global priority for refugee integration into national health systems. Employing the above-mentioned framework, actor power increased due to network expansion through collaborations between humanitarian and development actors. Ideas took hold through the framing of integration as a human rights and responsibility sharing. While political context was influenced through several global movements, it was ultimately the influx of Syrian refugees into Europe and the increasing securitization of the refugee crisis that led to key policies, and critically, global funding to support integration within refugee hosting nations. Finally, issue characteristics, namely the magnitude of the global refugee crisis, its protractedness and the increasing urbanicity of refugee inflows, led integration to emerge as a manageable solution. CONCLUSION: The past decade has seen a substantial reframing of refugee integration, along with increased financing sources and increased collaboration, explains this shift towards their integration into health systems. However, despite the emergence of integration as a global political priority, the extent to which efforts around integration have translated into action at the national level remains uncertain.

14.
Childs Nerv Syst ; 2024 Apr 22.
Article in English | MEDLINE | ID: mdl-38647663

ABSTRACT

Marshall-Smith Syndrome (MSS) is a rare progressive developmental disorder that severely impairs a patient's intellectual development and physical health. The only known cause for MSS is a mutation in the nuclear factor 1 X (NFIX) gene. This mutation affects neuronal development and protein transcription. Historically, most patients with MSS do not survive beyond 3 years of age. Reports of ocular findings are limited. We report a case of a 9-year-old MSS patient with progressive craniosynostosis, elevated intracranial pressure, and catastrophic ocular complications. A comprehensive PubMed literature search from 2018 to August 2022 updating a previous review of older literature produced 72 articles relating to MSS, which are reviewed.

15.
Int J Biol Macromol ; 267(Pt 1): 131506, 2024 May.
Article in English | MEDLINE | ID: mdl-38604422

ABSTRACT

Marine green algae produce sulfated polysaccharides with diverse structures and a wide range of biological activities. This study aimed to enhance the biotechnological potential of sulfated heterorhamnan (Gb1) from Gayralia brasiliensis by chemically modifying it for improved or new biological functions. Using controlled Smith Degradation (GBS) and O-alkylation with 3-chloropropylamine, we synthesized partially water-soluble amine derivatives. GBS modification increase sulfate groups (29.3 to 37.5 %) and α-l-rhamnose units (69.9 to 81.2 mol%), reducing xylose and glucose, compared to Gb1. The backbone featured predominantly 3- and 2-linked α-l-rhamnosyl and 2,3- linked α-l-rhamnosyl units as branching points. Infrared and NMR analyses confirmed the substitution of hydroxyl groups with aminoalkyl groups. The modified compounds, GBS-AHCs and GBS-AHK, exhibited altered anticoagulant properties. GBS-AHCs showed reduced effectiveness in the APTT assay, while GBS-AHK maintained a similar anticoagulant activity level to Gb1 and GBS. Increased nitrogen content and N-alkylation in GBS-AHCs compared to GBS-AHK may explain their structural differences. The chemical modification proposed did not enhance its anticoagulant activity, possibly due to the introduction of amino groups and a positive charge to the polymer. This characteristic presents new opportunities for investigating the potential of these polysaccharides in various biological applications, such as antimicrobial and antitumoral activities.


Subject(s)
Anticoagulants , Chlorophyta , Mannans , Seaweed , Sulfates , Anticoagulants/pharmacology , Anticoagulants/chemistry , Anticoagulants/chemical synthesis , Chlorophyta/chemistry , Seaweed/chemistry , Sulfates/chemistry , Polysaccharides/chemistry , Polysaccharides/pharmacology , Polysaccharides/chemical synthesis , Humans , Deoxy Sugars/chemistry , Deoxy Sugars/pharmacology
16.
Front Comput Neurosci ; 18: 1357607, 2024.
Article in English | MEDLINE | ID: mdl-38585279

ABSTRACT

This research work introduces a novel, nonintrusive method for the automatic identification of Smith-Magenis syndrome, traditionally studied through genetic markers. The method utilizes cepstral peak prominence and various machine learning techniques, relying on a single metric computed by the research group. The performance of these techniques is evaluated across two case studies, each employing a unique data preprocessing approach. A proprietary data "windowing" technique is also developed to derive a more representative dataset. To address class imbalance in the dataset, the synthetic minority oversampling technique (SMOTE) is applied for data augmentation. The application of these preprocessing techniques has yielded promising results from a limited initial dataset. The study concludes that the k-nearest neighbors and linear discriminant analysis perform best, and that cepstral peak prominence is a promising measure for identifying Smith-Magenis syndrome.

17.
J Neurodev Disord ; 16(1): 18, 2024 Apr 18.
Article in English | MEDLINE | ID: mdl-38637764

ABSTRACT

BACKGROUND: Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques. Threats to the precision and validity of questionnaire data may undermine existing insights into this behaviour. Previous research indicates objective measures, namely actigraphy, can effectively differentiate non-overactive children from those with attention-deficit hyperactivity disorder. This study is the first to examine the sensitivity of actigraphy to overactivity across rare genetic syndromes associated with intellectual disability, through comparisons with typically-developing peers and questionnaire overactivity estimates. METHODS: A secondary analysis of actigraphy data and overactivity estimates from The Activity Questionnaire (TAQ) was conducted for children aged 4-15 years with Smith-Magenis syndrome (N=20), Angelman syndrome (N=26), tuberous sclerosis complex (N=16), and typically-developing children (N=61). Actigraphy data were summarized using the M10 non-parametric circadian rhythm variable, and 24-hour activity profiles were modelled via functional linear modelling. Associations between actigraphy data and TAQ overactivity estimates were explored. Differences in actigraphy-defined activity were also examined between syndrome and typically-developing groups, and between children with high and low TAQ overactivity scores within syndromes. RESULTS: M10 and TAQ overactivity scores were strongly positively correlated for children with Angelman syndrome and Smith-Magenis syndrome. M10 did not substantially differ between the syndrome and typically-developing groups. Higher early morning activity and lower evening activity was observed across all syndrome groups relative to typically-developing peers. High and low TAQ group comparisons revealed syndrome-specific profiles of overactivity, persisting throughout the day in Angelman syndrome, occurring during the early morning and early afternoon in Smith-Magenis syndrome, and manifesting briefly in the evening in tuberous sclerosis complex. DISCUSSION: These findings provide some support for the sensitivity of actigraphy to overactivity in children with rare genetic syndromes, and offer syndrome-specific temporal descriptions of overactivity. The findings advance existing descriptions of overactivity, provided by questionnaire techniques, in children with rare genetic syndromes and have implications for the measurement of overactivity. Future studies should examine the impact of syndrome-related characteristics on actigraphy-defined activity and overactivity estimates from actigraphy and questionnaire techniques.


Subject(s)
Angelman Syndrome , Intellectual Disability , Smith-Magenis Syndrome , Tuberous Sclerosis , Child , Humans , Smith-Magenis Syndrome/complications , Angelman Syndrome/complications , Angelman Syndrome/diagnosis , Tuberous Sclerosis/complications , Intellectual Disability/complications
18.
Indian J Otolaryngol Head Neck Surg ; 76(1): 1476-1477, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38440652

ABSTRACT

The traditional Le Fort level 1 osteotomy has proven to be an effective in approaching central skull base lesions. The challenge being - stabilization of the down-fractured maxilla in an amenable position for tumour resection. The authors describe a simple technique to overcome the task of stabilizing the down-fractured maxilla.

19.
Cureus ; 16(2): e53613, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38449995

ABSTRACT

Adults with intellectual and developmental disabilities (IDD) are increasingly living into adulthood, highlighting the need for adult clinicians to expand their familiarity with congenital conditions. Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive inborn error of cholesterol synthesis. SLOS is commonly diagnosed in childhood, but a number of adults with IDD progress into adulthood without a formal diagnosis. We present an 18-year-old male with a history of IDD and altered pain sensation who was hospitalized following a self-inflicted knife injury resulting in a traumatic ventricular septal defect. Over the following 15 years, the patient continued to exhibit self-injurious behaviors. At the age of 33, caregivers consented to further work-up of his intellectual disability, and whole-exome genetic sequencing revealed a diagnosis of SLOS. The clinical course of this patient represents a unique presentation of altered pain sensation, a delayed diagnosis of SLOS into adulthood, and the challenges of providing care to an adult with IDD. The case further highlights the importance of understanding the typical workup and management of genetic and congenital conditions arising in childhood.

20.
Clin Case Rep ; 12(4): e8719, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38550733

ABSTRACT

Key Clinical Message: This case report aims to raise a physiotherapy intervention for subjects with SMS. The basis is an active work, based on postural control and balance training. Physiotherapists can play an important role in the management of these subjects. Abstract: Smith-Magenis syndrome (SMS) is a genetic alteration that encompasses a series of psychophysical repercussions that interferes with postural control and the autonomous functionality of the subjects who suffer from it. In this study, a clinical case of an 18-year-old adolescent with a genetic diagnosis of an SMS mutation is presented. This work proposes a physiotherapy intervention, adapted to the individual conditions and agreed upon with his family. The goal would be to analyze the effectiveness of postural control and balance training in a subject with SMS. A physiotherapy intervention based on postural control and balance was proposed. This approach is combined with the strengthening and readaptation of the antigravity muscles, through strength training, mobilization exercises, gait and transfers reeducation. An initial assessment was carried out. The interventions were developed at the home of the clinical case. The main variables were balance and postural control. For this, the following measurement scales and tests were used: Face Scale, Gross Motor Function Scale, Berg Balance Scale, Romberg Test, Barthel Index, and Functional Assessment of Sitting (SATco scale). After the intervention, the case presented under observation greater postural control in the transfers, less imbalances, and introduced new positions during their development, which allow more functional and autonomous movement. This was also extrapolated to gait, which was optimized in its development. This observation was not reflexed in test scores, which remained the same than the initial assessment. The intervention had a positive effect on the development of trunk control, transfers, and gait.

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