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1.
Indian J Orthop ; 58(10): 1499-1503, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39324086

RESUMEN

Introduction: Hydatid disease is uncommon in Humans. It rarely affects the bones and joints (0.5-4%). Frequent sites of bony involvement are vertebrae, pelvic bones, upper end of long bones e.g. humerus, femur and tibia. Material and methods: We report a case of 41-year old female with primary Hydatid cyst of the entire right femur. Patient complaint of severe pain and was non ambulatory since the last 2 months. Results: Here, single staged Total Right Femur Replacement was done under General Anaesthesia. Patient was discharged after 6 days of hospital stay in a stable condition where physical rehabilitation was initiated after day one of the surgery, progressing to aided walking, standing and active lower limb exercises. Conclusion: Involvement of the entire femur was a challenging case. There is no consensus/gold standard treatment of severe cases. Given the involvement of the entire Right Femur along with spillage in the neighbouring muscles, patient underwent Total Femur Replacement with Hip and Knee Replacement.

2.
Front Plant Sci ; 15: 1422578, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39175487

RESUMEN

Fall armyworm (FAW), Spodoptera frugiperda (J.E. Smith), a threat to maize production systems, is a polyphagous pest of global significance. There is no registered bioinsecticide of botanical origin to provide green remedy against this pest of concern. The present study reports for the first time the potency of the polar and non-polar bioinsecticidal leads sourced from Lippia alba (Mill.) N.E. Br. leaves. Shade-dried leaves of L. alba were extracted and evaluated; based on preliminary bioassay, the ethyl acetate leaf extract of L. alba (LEAE) was found to be the most potent against FAW in the in vitro and in vivo studies. Ultraperformance liquid chromatography-quadrupole time-of-flight-mass spectrometric (UPLC-QToF-MS) analysis of LEAE revealed the rich chemical profile of 28 compounds, dominated by flavones, namely, naringenin, trihydroxy-dimethoxy flavone, and dihydroxy-trimethoxy flavone. Among others, glycosides, such as clerodendrin, calceolarioside E, forsythoside B, geniposide, and martynoside, and glucuronides, such as luteolin-7-diglucuronide, tricin-7-O-glucuronide, and luteolin-7-O-glucuronide, were also identified. LEAE exhibited exceptionally high in vitro [LC50 = 6,900 parts per million (ppm)] and in vivo (computed as damage score on a scale of 1-9) insecticidal activity against S. frugiperda, with no phytotoxicity at a dose as high as 20 times of LC50. LEAE also exhibited significant antifeedant, ovicidal, and growth regulatory activity at the 70-16,000 ppm (w/v) concentration range. In silico assessment revealed strong binding of martynoside, calceolarioside E, and forsythoside B with acetylcholinesterase-, sodium-, and chloride-dependent γ-aminobutyric acid (GABA) receptor and ryanodine receptor, respectively, facilitated by hydrogen bonds (conventional and C-H bonds) stabilized by hydrophobic pi-sigma, pi-pi stacked, pi-alkyl, and alkyl interactions. The present study established L. alba as a potential bioresource and secondary metabolite enriched LEAE as bioinsecticide for further product development.

3.
Eur J Emerg Med ; 2024 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-38985833

RESUMEN

OBJECTIVE: Lidocaine patches are commonly prescribed for acute localized pain. Most of the existing evidence is, however, derived from postoperative or chronic pain. The objective of this study is to assess the efficacy and safety of lidocaine patch compared to placebo patch or nonsteroidal anti-inflammatory drugs (NSAIDs) for acute localized pain. METHODS: Systematic review and meta-analysis of trials randomizing patients with acute localized pain to lidocaine patch versus placebo patch or NSAIDs. OUTCOMES: Change in pain score (any validated scale) from baseline to a specific time endpoint (primary efficacy); adverse events (primary harm), and time to exit the study due to reaching a pain relief target (secondary). We used Cochrane revised tool to assess the risk of bias and GRADE to rate the quality of evidence. The meta-analysis was performed using a random-effects model and Cochrane Q test for heterogeneity. Data were summarized as risk ratios and weighted mean differences with 95% confidence interval (CI). RESULTS: We conducted a comprehensive search of MEDLINE, EMBASE, and other major databases, identifying 10 randomized controlled trials with a total of 523 patients. These trials collectively found that lidocaine patches were more effective in controlling both musculoskeletal and neuropathic pain compared to placebo patches. Due to heterogeneity among the studies, we did not pool the efficacy data. The risk of adverse events was similar between the groups (risk ratio: 0.90; 95% CI: 0.48-1.67; moderate-quality evidence). In the two trials comparing lidocaine patches with NSAIDs, there was no statistically significant difference in pain relief between the treatments. CONCLUSION: Low to moderate-quality evidence from small trials supports the efficacy and safety of lidocaine patch for the treatment of acute localized pain.

4.
J Family Med Prim Care ; 13(6): 2397-2403, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39027870

RESUMEN

Context: Dengue is one of the important vector-borne viral diseases affecting humans with diverse manifestations. Toll-like receptors (TLR) are pattern recognition receptors and play an important role in innate immunity against microbes. TLR3 plays a critical role in controlling the innate immune response mediated by flaviviruses such as dengue. Aim: We attempted to study the susceptibility of single nucleotide polymorphism of the TLR3 gene in dengue encephalitis (DE) patients and determine the association in terms of genotype, allele, and haplotype distribution along with the clinical outcome. Settings and Design: It was a case-controlled observational study in a tertiary care hospital. Methods and Material: We investigated the single nucleotide polymorphism in the TLR3 Leu412Phe gene using real-time polymerase chain reaction in 29 cases of DE and compared them with equal number of age- and sex-matched dengue patients without neurological features. Statistical Analysis Used: The genotype and allele frequencies were compared using a two-sided Chi-square or Fisher's exact test. Results: The findings revealed that the genotypic distribution of TLR3 Leu412Phe polymorphism for the mutant genotype Phe/Phe (TT) demonstrated increased association of DE (31.03% vs 6.8%, P 0.019, odds ratio 6.075, 95% confidence interval 1.181-31.245). However, the number of heterozygous (H) genotype (Leu/Phe-CT) and mutant Phe allele (T) did not show any statistically significant association. TLR3 gene polymorphism did not show any correlation with mortality outcome at 1 month. Conclusion: The presence of mutant TLR3 Leu412Phe polymorphism may confer the propensity to have DE in patients with dengue infection in the Indian population. TLR3 polymorphism did not affect mortality outcome at 1 month.

5.
Ann Afr Med ; 23(3): 518-522, 2024 Jul 01.
Artículo en Francés, Inglés | MEDLINE | ID: mdl-39034585

RESUMEN

Snakebites are a major cause of morbidity and mortality worldwide. Snake envenomation can cause acute local and systemic effects leading to severe complications, even death. Neurological complications such as intracranial hemorrhage, subarachnoid bleed, ischemic strokes, acute disseminated encephalomyelitis, and leukoencephalopathy have been reported. Anti-snake venom which forms the mainstay of therapy also has its own set of early and delayed complications. This report describes a rare case of snakebite resulting in leukoencephalopathy and parkinsonian features.


RésuméLes morsures de serpent sont une cause majeure de morbidité et de mortalité dans le monde. L'envenimation par les serpents peut provoquer des effets locaux et systémiques aigus, conduisant à de graves complications, voire à la mort. Complications neurologiques telles qu'hémorragie intracrânienne, hémorragie sous-arachnoïdienne, accidents vasculaires cérébraux ischémiques, une encéphalomyélite aiguë disséminée et une leucoencéphalopathie ont été rapportées. Le venin anti-serpent qui constitue le pilier de la thérapie a également son propre ensemble de complications précoces et retardées. Ce rapport décrit un cas rare de morsure de serpent ayant entraîné une leucoencéphalopathie et caractéristiques parkinsoniennes.


Asunto(s)
Antivenenos , Mordeduras de Serpientes , Humanos , Mordeduras de Serpientes/complicaciones , Antivenenos/uso terapéutico , Masculino , Resultado del Tratamiento , Trastornos Parkinsonianos/etiología , Trastornos Parkinsonianos/tratamiento farmacológico , Animales , Adulto , Imagen por Resonancia Magnética , Femenino
6.
Acad Emerg Med ; 31(8): 789-804, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38826092

RESUMEN

BACKGROUND: Emergency department (ED) crowding has repercussions on acute care, contributing to prolonged wait times, length of stay, and left without being seen (LWBS). These indicators are regarded as systemic shortcomings, reflecting a failure to provide equitable and accessible acute care. The objective was to evaluate the effectiveness of interventions aimed at improving ED care delivery indicators. METHODS: This was a systematic review and meta-analysis of randomized controlled trials (RCTs) assessing ED interventions aimed at reducing key metrics of time to provider (TTP), time to disposition (TTD), and LWBS. We excluded disease-specific trials (e.g., stroke). We used Cochrane's revised tool to assess the risk of bias and Grading of Recommendations, Assessment, Development, and Evaluations to rate the quality of evidence. The meta-analysis was performed using a random-effects model and Cochrane Q test for heterogeneity. Data were summarized as means (±SD) for continuous variables and risk ratios (RR) with 95% confidence intervals (CIs). RESULTS: We searched MEDLINE, EMBASE, and other major databases. A total of 1850 references were scanned and 20 RCTs were selected for inclusion. The trials reported at least one of the three outcomes of TTD, TTP, or LWBS. Most interventions focused on triage liaison physician and point-of-care (POC) testing. Others included upfront expedited workup (ordering tests before full evaluation by a provider), scribes, triage kiosks, and sending notifications to consultants or residents. POC testing decreased TTD by an average of 5-96 min (high heterogeneity) but slightly increased TTP by a mean difference of 2 min (95% CI 0.6-4 min). Utilizing a triage liaison physician reduced TTD by 28 min (95% CI 19-37 min; moderate-quality evidence) and was more effective in reducing LWBS than routine triage (RR 0.76, 95% CI 0.66-0.88; moderate quality). CONCLUSIONS: Operational strategies such as POC testing and triage liaison physicians could mitigate the impact of ED crowding and appear to be effective. The current evidence supports these strategies when tailored to the appropriate practice environment.


Asunto(s)
Aglomeración , Servicio de Urgencia en Hospital , Humanos , Servicio de Urgencia en Hospital/organización & administración , Mejoramiento de la Calidad , Triaje , Tiempo de Internación/estadística & datos numéricos , Ensayos Clínicos Controlados Aleatorios como Asunto , Indicadores de Calidad de la Atención de Salud , Factores de Tiempo
7.
Adv Exp Med Biol ; 1451: 55-74, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38801571

RESUMEN

The complex cytoplasmic DNA virus known as the fowlpox virus (FWPV) is a member of the avipoxvirus genus, Subfamily Chordopoxvirinae, and Family Poxviridae. The large genome size of FWPV makes it a potential vector for the creation of vaccines against a range of serious veterinary and human ailments. It also allows for multiple gene insertion and the generation of abortive infection in mammalian cells. The virus, which causes fowlpox in chickens and turkeys, is mainly transmitted to poultry through aerosols or biting insects. Fowlpox is a highly contagious disease that affects both domestic and wild birds, causing cutaneous and/or diphtheritic illnesses. To control the illness, strict hygiene practices and immunization with FWPV attenuated strains or antigenically similar pigeon pox virus vaccines are employed. Recent years have seen an increase in fowlpox outbreaks in chicken flocks, primarily due to the introduction of novel forms of FWPV. It is believed that the pathogenic characteristics of these strains are enhanced by the integration of reticuloendotheliosis virus sequences of variable lengths into the FWPV genome. The standard laboratory diagnosis of FPV involves histopathological analysis, electron microscopy, virus isolation on chorioallantoic membrane (CAM) of embryonated chicken eggs or cell cultures, and serologic techniques. For quick and consistent diagnosis, polymerase chain reaction (PCR) has proven to be the most sensitive method. PCR is used in concert with restriction endonuclease enzyme analysis (REA) to identify, differentiate, and characterize the molecular makeup of isolates of the fowlpox virus. Sequencing of the amplified fragments is then done.


Asunto(s)
Virus de la Viruela de las Aves de Corral , Viruela Aviar , Virus de la Viruela de las Aves de Corral/genética , Animales , Viruela Aviar/virología , Pollos/virología , Genoma Viral
8.
Ann Indian Acad Neurol ; 27(2): 111-112, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38751917
10.
Acad Emerg Med ; 31(6): 621-623, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38517114

Asunto(s)
COVID-19 , Humanos , SARS-CoV-2
12.
Clin Neuroradiol ; 34(3): 577-585, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38451268

RESUMEN

OBJECTIVE: This study aimed to assess the neuroimaging abnormalities and their progression in patients with Subacute sclerosing panencephalitis (SSPE) and identify clinical predictors of these imaging findings. METHODS: This prospective observational study evaluated clinical and neuroimaging features in patients with SSPE. Patients were categorized using Dyken's criteria, Jabbour's staging system, and the definition of fulminant SSPE. They underwent comprehensive clinical assessments, cerebrospinal fluid examination, Electroencephalogram (EEG), and Magnetic Resonance Imaging (MRI) scans. Treatment involved intrathecal interferon­α and antiepileptic medications. Functional disability was assessed using the modified Barthel index. Follow-ups were performed at 6 months, including reassessment of Modified Barthel Index (MBI) and Jabbour's staging and EEG and MRI scans. RESULTS: The mean age was 13.9 ± 6.7 years, with males comprising 81.5% (44/54) of the cohort. Fulminant SSPE was noted in 33% (18/54) of cases. Disease duration before presentation varied significantly between fulminant and non-fulminant forms (p = 0.001). Neuroimaging abnormalities were more prevalent in JS III stage patients, with diffuse cerebral atrophy being a significant finding (p = 0.011). Basal ganglia involvement correlated with movement disorders. The 6­month follow-up showed increased cerebral atrophy (p = 0.004). Increasing disease duration was an independent predictor of cerebral atrophy. An Intercomplex interval (ICI) of more than 10 minutes correlated with normal neuroimaging, 10 patients died within the study period, 8 of whom had fulminant SSPE. CONCLUSION: Parieto-occipital White matter hyperintensity (WMH) is the most prevalent and sensitive neuroimaging finding for the diagnosis of SSPE. Despite interferon treatment, cerebral atrophy progressed in both aggressive and fulminant SSPE. Increasing disease duration is an independent predictor of cerebral atrophy.


Asunto(s)
Imagen por Resonancia Magnética , Neuroimagen , Panencefalitis Esclerosante Subaguda , Humanos , Panencefalitis Esclerosante Subaguda/diagnóstico por imagen , Panencefalitis Esclerosante Subaguda/complicaciones , Masculino , Femenino , Estudios Prospectivos , Adolescente , Estudios de Seguimiento , Neuroimagen/métodos , Imagen por Resonancia Magnética/métodos , Niño , Electroencefalografía , Progresión de la Enfermedad , Adulto Joven , Encéfalo/diagnóstico por imagen , Encéfalo/patología
13.
Acta Neurol Belg ; 124(3): 821-829, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38167743

RESUMEN

OBJECTIVE: To assess the incidence of seizures and the factors contributing to poor outcomes in patients with tuberculous meningitis (TBM). METHODS: In this prospective observational study, 129 patients with TBM were enrolled at the Department of Neurology, King George's Medical University, Uttar Pradesh, India, from April 2021 to April 2023. Detailed clinical history, neurological examinations, baseline laboratory tests, contrast-enhanced Magnetic resonance imaging (MRI) and electroencephalography (EEG) were obtained for all patients. Patients received anti-tuberculous therapy and, if necessary, anti-epileptic treatment. Patients were followed for 6 months, with outcomes evaluated using the Modified Rankin Scale (MRS). RESULTS: Of the 129 patients, 48 (37.2%) reported seizures. Advanced TBM stage (p = 0.040, OR = 2.50 95% CI:1.02-6.07), cortical involvement (p = .0.013, OR = 2.58 95% CI:1.20-5.51) and spike-wave discharges in the EEG (p = 0.001) were significantly associated with seizure occurrence. After multivariate analysis, only cortical involvement (p = 0.031, OR = 2.34, 95% CI:1.08-5.08) emerged as independent predictor of for seizures. Focal to bilateral seizures (p = 0.008, OR = 9.41, 95% CI: 1.76-74.04), status epilepticus (p = 0.002, OR = 8.00, 95% CI: 1.86-34.32), and rifampicin resistance (p = 0.022, OR = 9.25, 95% CI: 1.43-59.50) were significantly associated with poor outcomes at the 6-month mark. CONCLUSION: Seizures were significantly associated with advanced stage of the disease, cortical involvement on neuro-imaging and epileptiform pattern on EEG. Additionally, focal to bilateral seizures and status epilepticus adversely affected the outcome.


Asunto(s)
Electroencefalografía , Convulsiones , Tuberculosis Meníngea , Humanos , Tuberculosis Meníngea/complicaciones , Tuberculosis Meníngea/tratamiento farmacológico , Tuberculosis Meníngea/fisiopatología , Masculino , Femenino , Adulto , Estudios Prospectivos , Convulsiones/etiología , Convulsiones/tratamiento farmacológico , Convulsiones/epidemiología , Convulsiones/diagnóstico por imagen , Persona de Mediana Edad , Adulto Joven , India/epidemiología , Antituberculosos/uso terapéutico , Adolescente , Incidencia , Imagen por Resonancia Magnética
14.
Indian Dermatol Online J ; 15(1): 33-38, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38283019

RESUMEN

Background: Chronic pruritus poses a significant challenge to treating physicians due to multitude of underlying causes and varying treatment strategies. Several topical, systemic, and physical modalities have been tried with variable success. Prescription practices in chronic pruritus are influenced by differential knowledge and experience of physicians, patient-related factors, and resource availability. Aim: The purpose of this survey was to observe the current pattern of practice in Indian dermatologists in the management of chronic pruritus and to identify practice gaps particularly regarding the use of various systemic agents as antipruritics. Materials and Methods: A previously validated questionnaire was sent to consultant dermatologists across India between January 2020 and July 2020. The questionnaire was comprised of six questions (multiple-choice questions as well as open-ended questions) regarding the use of antidepressants, cyclic gamma-aminobutyric acid (GABA) analogues, opioid antagonists, antihistamines, and alternate therapies in the management of chronic pruritus. Results: A total of 700 dermatologists completed the questionnaire (response rate 70%). Overall, antihistamines were the most common drug prescribed in chronic pruritus (more than 95% respondents). Other systemic agents such as opioid antagonists, gabapentinoids, and antidepressants were prescribed by 22.42%, 71.85%, and 75.29% respondents, respectively, in chronic pruritus as either monotherapy or in combination with antihistamines in specific types of itches. Among antidepressants, tricyclic antidepressants (TCAs) (69.29%) were prescribed most often, followed by selective serotonin reuptake inhibitors (SSRIs) (32.29%) and serotonin and norepinephrine reuptake inhibitors (SNRIs) (9.14%). Other treatment options such as omalizumab, thalidomide, ondansetron, ursodeoxycholic acid (UDCA), and rifampicin were used by 10% respondents to alleviate pruritus in special situations. Conclusion: This survey revealed the redundant practice of prescribing antihistamines in chronic pruritus irrespective of etiology among Indian dermatologists. It also revealed a differential approach regarding use of systemic agents such as gabapentinoids, opioid antagonists, and antidepressants, in academic and non-academic institutions. The survey emphasized a barrier in writing prescription of systemic agents such as opioid antagonist and SNRIs due to lack of knowledge and experience, fear of side effects, and inadequate available evidence.

15.
16.
Photochem Photobiol ; 100(5): 1262-1276, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38102890

RESUMEN

A solvent-free sulfur-bridge-eosin-Y (SBE-Y) polymeric framework photocatalyst was prepared for the first time through an in situ thermal polymerization route using elemental sulfur (S8) as a bridge. The addition of a sulfur bridge to the polymeric framework structure resulted in an allowance of the harvesting range of eosin-Y (E-Y) for solar light. This shows that a wider range of solar light can be used by the bridge material's photocatalytic reactions. In this context, supercharged solar spectrum: enhancing light absorption and hole oxidation with sulfur bridges. This suggests that the excited electrons and holes through solar light can contribute to oxidation-reduction reactions more potently. As a result, the photocatalyst-enzyme attached artificial photosynthesis system developed using SBE-Y as a photocatalyst performs exceptionally well, resulting in high 1,4-NADH regeneration (86.81%), followed by its utilization in the exclusive production of formic acid (210.01 µmol) from CO2 and synthesis of fine chemicals with 99.9% conversion yields. The creation of more effective photocatalytic materials for environmental clean-up and other applications that depend on the solar light-driven absorption spectrum of inorganic and organic molecules could be one of the practical ramifications of this research.

17.
J Family Med Prim Care ; 12(10): 2313-2317, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38074247

RESUMEN

Introduction: Neonatal sepsis is an infection in newborns that may be caused by bacteria, fungi, or viruses and has a high death and morbidity rate. The clinical presentation of sepsis may be rather general, making it challenging to make a diagnosis. While blood culture is the most accurate method to diagnose sepsis, it is also time-consuming. Because of this, it is crucial to locate other biomarkers like C-reactive protein (CRP), high sensitive C-reactive protein (hs-CRP), and procalcitonin (PCT) that may aid in early identification. Aim: To learn about the bacterial composition of suspected cases of neonatal sepsis in a tertiary care hospital in western Uttar Pradesh and how that composition relates to the biomarkers CRP, hs-CRP, and PCT. Materials and Methods: Hundred people who fulfilled the study's inclusion criteria were included. All neonatal venous blood samples have been obtained after receiving written informed permission from either parent. The conventional method was used to perform the blood culture. The ELISA technique has been used to determine hs-CRP along with serum PCT levels, while the latex agglutination test was utilized for CRP detection. Result: A total of 100 cases were enrolled, 78% presented within 3 days of birth. Blood culture was positive in 33 neonates (33%). There were 17 Gram-positive, 15 Gram-negative, and in all 2 cases with poly bacterial culture. CRP positivity rate was significantly higher in culture positive (57.6%) as compared to culture-negative neonates (25.4%). It was shown that a CRP >6 mg/l level was sensitive at 57.6% and specific at 74.6%. hs-CRP has a 100% sensitivity and 47.8% specificity. The PCT's sensitivity was 69.7%, whereas its specificity was 89.6%. Conclusion: PCT is more specific for detecting sepsis, but hs-CRP is more sensitive than CRP. The combination of PCT along with hs-CRP has a negative predictive value and high sensitivity compared to other markers. Thus, the most accurate predictors of neonatal sepsis would be a combination of factors.

18.
Med J Armed Forces India ; 79(Suppl 1): S244-S249, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38144609

RESUMEN

Background: In a tropical country like India, the warm and humid climate plays an important role in the increased incidence of superficial fungal infections. This is a study to identify the causative fungi of dermatophytosis and their in vitro antifungal susceptibility pattern among patients reporting to multiple tertiary care hospitals. Methods: Skin scrapping, nail clipping, and hair follicles were processed for microscopy, culture, and antifungal susceptibility testing as per standard guidelines. Antifungal susceptibility was performed as per published by Clinical Laboratory Standards Institute for yeasts (M27-A3) and filamentous fungi (M38-A2). Result: The study sample had a predominantly male population with the commonest age group being 21-30 years (39.57%) followed by 31-40 years (31.46%). Tinea corporis (57.30%) was the most common clinical presentation followed by tinea cruris (20.85%) and onychomycosis (14.73%). Microscopy positivity was 43.19%, while culture positivity was 23.97%. Dermatophytes accounted for the majority of isolates. All fungal isolates had high minimum inhibitory concentration (MIC) to fluconazole, suggesting that dermatophytes are possibly resistant to this drug. Conclusion: Trichophyton mentagrophytes is confirmed as the dominant pathogen of dermatophytosis in all three tertiary care hospitals.

20.
BMJ Case Rep ; 16(11)2023 Nov 17.
Artículo en Inglés | MEDLINE | ID: mdl-37977846

RESUMEN

Early-onset cerebellar ataxia has a broad range of challenging differential diagnoses. Identification of hypogonadism can assist in narrowing down differential diagnosis in the presentation of progressive ataxia. Gordon Holmes syndrome as described by Sir Gordon Holmes in 1908 consists of ataxia with hypogonadism. It is due to mutation in RNF216 and OTUD4 genes which encode for enzymes in the ubiquitin-proteasome system. In this case report, we describe a 30-year-old male presenting with insidious-onset progressive ataxia with hypogonadotropic hypogonadism, cataract, pan-cerebellar atrophy with bilateral cerebral white matter hyperintensities and a positive homozygous mutation for RNF216 making the diagnosis of Gordon Holmes syndrome. The presence of hypogonadism in a patient with ataxia should alert the clinician to look for such a diagnosis.


Asunto(s)
Ataxia Cerebelosa , Hipogonadismo , Degeneraciones Espinocerebelosas , Humanos , Masculino , Adulto , Ataxia Cerebelosa/diagnóstico , Ataxia Cerebelosa/genética , Ubiquitina-Proteína Ligasas/genética , Ataxia/genética , Hipogonadismo/diagnóstico , Hipogonadismo/genética , Mutación , Proteasas Ubiquitina-Específicas/genética
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