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Guanidinoacetate N-methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder characterized by a decrease in creatine synthesis, resulting in cerebral creatine deficiency syndrome (CCDS). GAMT deficiency is caused by mutations in the GAMT gene located on chromosome 19, which impairs the conversion of guanidinoacetic acid (GAA) to creatine. The resulting accumulation of the toxic metabolite GAA and the lack of creatine lead to various symptoms, including global developmental delays, behavioral issues, and epilepsy. The gold standard for diagnosis of GAMT deficiency is genetic testing. Treatment options for GAMT deficiency include creatine supplementation, ornithine supplementation, arginine restriction, and sodium benzoate supplementation. These treatment options have been shown to improve movement disorders and epileptic symptoms, but their impact on intellectual and speech development is limited. Early intervention has shown promising results in normalizing neurological development in a minor subgroup of patients. Therefore, there is a growing need for newborn screening techniques to detect GAMT deficiency early and prevent permanent neurological delays. Here we report a case of GAMT deficiency with emphasis on imaging presentation. Our case showed reduced brain parenchyma creatine stores on MR Spectroscopy, which may provide an avenue to aid in early diagnosis.
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Neurodegenerative disorders are classified as a group of diseases with progressive loss of neurons secondary to aggregation of misfolded proteins. A few of these neurodegenerative diseases have been associated with degeneration of the transverse pontocerebellar tracts and median pontine raphe nuclei. This specific neuron degeneration results in the radiologic hot cross bun sign (HCBS) on MRI T2 imaging and helps narrow down the differential diagnosis. While multiple system atrophy has a higher prevalence of the HCBS than other neurodegenerative diseases, the sign has also been described with other neurodegenerative disorders such as spinocerebellar ataxia (SCA), and variant Creutzfeldt-Jakob disease. Here, we present a case of spinocerebellar ataxia type 34 with a characteristic hot-cross bun sign and provide a brief review of the literature.
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Schwannomas are rare nerve sheath tumors that can occur throughout the body, and are symptomatic based on location, size, and impingement on adjacent structures. These tumors are often benign lesions and occur sporadically or from genetic conditions such as neurofibromatosis. Schwannomas may arise from peripheral nerves, gastrointestinal nerves, spinal nerve roots and cranial nerves. Facial nerve schwannomas arise from cranial nerve VII, commonly involving the geniculate ganglion, labyrinthine segment, and internal auditory canal. While small lesions are asymptomatic, larger lesions can cause facial nerve paralysis, and facial spasms. Lesions in the internal auditory canal can cause hearing loss, tinnitus, vertigo, and otalgia. High-resolution CT imaging and MRI imaging are useful for distinguishing between other pathologies that arise from the same region. High-resolution CT scans can show bony degeneration of nearby structures such as the labyrinth or ossicles. MRI imaging shows hypo intensity on T1 imaging, and hyperintensity on T2 imaging. On T1 postcontrast, enhancement can be homogenous or heterogeneous with cystic degeneration if the lesion is large. Nodular enhancement is commonly seen on facial nerve schwannomas within the internal auditory canal. Vestibular schwannomas involving CN VIII are more common, and appear similar to facial nerve schwannomas, but can be distinguished apart due to growth in the geniculate ganglion and/or the labyrinthine segment. Management of asymptomatic or mild lesions is typically conservative with follow up imaging, and surgery for larger lesions. Here, we present a case of a facial nerve schwannoma in a 57-year-old woman.
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INTRODUCTION: Symptomatic intracranial atherosclerotic disease (sICAD) is estimated to cause over 10% of strokes annually in the US alone. Previous investigations employing stenting, most notably SAMMPRIS trial, have produced unfavorable results in regards to both periprocedural complications and risk of recurrent stroke. However, newer generation balloon-mounted drug-eluting stents (BM-DES) have been hypothesized to harbor several technical advantages that may confer improvements in these critical metrics. METHODS: Prospectively maintained databases from eight comprehensive stroke centers were reviewed to identify adult patients undergoing RO-ZES for the treatment of sICAD between January,2019 and December,2021. Only patients that presented with either recurrent stroke or TIA, intracranial stenosis 70-99%, with at least one stroke on best medical management were included. The primary outcome was 30-days composite of stroke, ICH, and/or mortality. A propensity-score matched analyses was performed comparing the results of RO-ZES to the intervention arm of SAMMPRIS. RESULTS: A total of 132 patients met the inclusion criteria for analysis (mean age:64.2 years). Mean severity of stenosis (±SD) was 81.4% (±11.4%). Four (3.03%) stroke and/or deaths were reported within 30 days in RO-ZES group. A propensity-score matched analysis based on age, HLD, HTN, DMII, and smoking demonstrated a statistically significant decreased risk of 30-day stroke and/or death rate in RO-ZES in comparison to SAMMPRIS (2.6% vs. 15.6%, respectively; OR 6.88, 95% CI 1.92-37.54, p < 0.001). CONCLUSIONS: Patients treated with RO-ZES had a decreased rate of 30-day major complications in comparison to SAMMPRIS. Further large-scale prospective studies are warranted to evaluate the safety and efficacy of RO-ZES for the treatment of sICAD.
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Accidente Cerebrovascular , Adulto , Humanos , Persona de Mediana Edad , Constricción Patológica/cirugía , Resultado del Tratamiento , Accidente Cerebrovascular/etiología , Stents/efectos adversos , Estudios ProspectivosRESUMEN
BACKGROUND: Symptomatic intracranial atherosclerotic disease (sICAD) is estimated to cause 10% of strokes annually in the United States. However, treatment remains a challenge with several different stenting options studied in the past with unfavorable results. OBJECTIVE: To report the 30-day stroke and/or death rate associated with intracranial stent placement for sICAD using Resolute Onyx Zotarolimus-Eluting Stent (RO-ZES) and provide a comparison with the results of Stenting Versus Aggressive Medical Management for Preventing Recurrent Stroke in Intracranial Stenosis (SAMMPRIS) trial. METHODS: Prospectively maintained databases across 8 stroke centers were used to identify adult patients treated with RO-ZES for sICAD between January 2019 and December 2021. Primary end point was composite of 30-day stroke, intracerebral hemorrhage, and/or death. Propensity score matching was performed using age, hypertension, lipid disorder, cigarette smoking, and symptomatic target vessel to create a matched group for comparison between RO-ZES and the SAMMPRIS medical management and treatment groups (SAMMPRIS percutaneous angioplasty and stenting [S-PTAS]). RESULTS: A total of 132 patients met the inclusion criteria for analysis (mean age: 64.2 years). Mean severity of stenosis was 81.4% (±11.4%). A total of 4 (3.03%) stroke and/or deaths were reported within 30 days of treatment in the RO-ZES group compared with 6.6% in the SAMMPRIS medical management group (OR [odds ratio] 2.26, 95% CI 0.7-9.56, P = .22) and 15.6% in the S-PTAS group (OR 5.9, 95% CI 2.04-23.4, P < .001). Propensity score match analysis of 115 patients in each group demonstrated 30-day stroke and/or death rate of 2.6% in the RO-ZES group and 15.6% in the S-PTAS group (OR 6.88, 95% CI 1.92-37.54, P < .001). CONCLUSION: Patients treated with RO-ZES had a relatively low 30-day stroke and/or death rate compared with the S-PTAS group. Further large-scale prospective studies are warranted to evaluate the safety and efficacy of RO-ZES for the treatment of sICAD.
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Stents Liberadores de Fármacos , Accidente Cerebrovascular , Adulto , Humanos , Persona de Mediana Edad , Constricción Patológica/cirugía , Stents Liberadores de Fármacos/efectos adversos , Puntaje de Propensión , Resultado del Tratamiento , Accidente Cerebrovascular/prevención & control , Accidente Cerebrovascular/etiología , Stents/efectos adversos , Infarto Cerebral/etiologíaRESUMEN
Presence of acute optic disc and optic nerve infarction in a young man is uncommon finding. This is most commonly seen in the setting of vasculitis and infection. Ischemic optic neuropathy has been reported with cocaine use, amlodipine and alcohol use. To our knowledge there is no reported case of ischemic optic neuropathy in the setting of heroin / opioid use. MR imaging findings in the setting of substance use are similar to other etiologies of ischemic optic neuropathy, with high T2/FLAIR signal, diffusion restriction and abnormal gadolinium enhancement. Here we report a case of 23-year-old man with heroin use disorder presenting with optic nerve infarct resulting in acute painless monocular vision loss.
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Intracranial stenosis is among the common causes of ischemic strokes, especially in the Asian, African, and Hispanic populations. The Stenting and Aggressive Medical Management for Preventing Recurrent Stroke in Intracranial Stenosis trial showed that, by 30 days, 33 (14.7%) of 224 patients in the stenting group and 13 (5.8%) of 227 patients in the medical group had died or had a stroke.1 The WEAVE (Wingspan Stent System Post Market Surveillance) trial showed 2%-2.7% periprocedural complications.2 However, with technical advancements and more experience, angioplasty and stenting in high-risk cases are feasible and successful even in vessels <2 mm. We present the technical nuances of angioplasty and stenting of a sub-2-mm intracranial vessel by submaximal balloon inflation. Both patients had recurrent ischemic stroke symptoms on best medical management. Best medical management includes a dual antiplatelet regimen with a high-dose statin. Both patients were compliant and had therapeutic platelet reactive unit.
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Angioplastia de Balón , Arteriosclerosis Intracraneal , Accidente Cerebrovascular , Humanos , Arteria Cerebral Media , Constricción Patológica/complicaciones , Resultado del Tratamiento , Accidente Cerebrovascular/etiología , Stents/efectos adversos , Angioplastia/efectos adversos , Arteriosclerosis Intracraneal/diagnóstico por imagen , Arteriosclerosis Intracraneal/cirugía , Arteriosclerosis Intracraneal/complicaciones , Angioplastia de Balón/efectos adversosRESUMEN
INTRODUCTION: Worldwide, stroke has become the major cause of mortality and morbidity among the old age population. Hypertension is one of the factors associated with stroke. Individuals with hypertension are at high risk of developing stroke. This study was conducted to determine the frequency of stroke factors associated with it among old-age hypertensive patients in Karachi, Pakistan. METHODS: It was a cross-sectional study conducted in outpatient departments (OPD) of two tertiary care hospitals of Karachi, Pakistan, including Jinnah Postgraduate Medical Center (JPMC) and Ziauddin Hospital. Eligible patients were invited to be a part of the study, and informed consent was taken from them before data collection. RESULTS: Multivariable logistic regression analysis showed that age (adjusted odds ratio [AOR]: 1.06, 95% CI: 1.03-1.11), smoking (AOR: 1.76, 95% CI: 1.14-2.72), lack of physical activity (AOR:2.57, 95% CI: 1.60-4.14), medication adherence (AOR: 4.22, 95% CI: 2.69-6.62), and dyslipidemia (AOR: 1.98, 95% CI: 1.23-3.21) were significantly related to prevalence of stroke in hypertensive population over 60 years or above. CONCLUSION: The prevalence of stroke was high in the hypertensive population aged above 60 years and above. The study found that factors significantly associated with stroke among the hypertensive population aged 60 years or above, included age, smoking, lack of physical activity, medication adherence, BMI, and dyslipidemia.
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INTRODUCTION: Percutaneous nephrolithotomy (PCNL) has almost completely replaced open surgery for kidney stones because of continuous advancements in the method since the first PCNL was performed in 1976. The aim of this study is to compare the characteristics and outcomes of adult patients and pediatric patients who had undergone PCNL. METHODOLOGY: A retrospective study was conducted at the Sindh Institute of Urology and Transplantation (SIUT) Hospital in Karachi, Pakistan. It included the data of patients who underwent PCNL from January 2015 to January 2022 at the SIUT hospital. The primary outcome variable was the stone-free rate (SFR). Secondary outcomes included length of hospital stay, and complications were assessed using modified Clavien classification system Results: There is no significant difference in the SFR at discharge between pediatric and adult patients (86.67% vs 88.69%, p=0.634). There is no significant difference between the two groups in relation to the total length of hospital stay (p=0.446). Moreover, 12.50% and 11.11% of adults and children developed complications, respectively, after the procedure. The percentages are not significantly different between the two groups (p=0.266). CONCLUSION: The current study using standardized and consistent PCNL techniques shows that SFR is similar in both adults and children, and there is no difference in complications between adults and children.
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[This retracts the article DOI: 10.7759/cureus.22690.].
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Livestock rearing is a common practice in Tehsil Takht-e-Nasrati by the locals to earn their livelihood. Low productivity due to poor health of livestock is major consideration in the study area. In order to know whether this low productivity and poor health might be due to poor quality of forage, ten plant species were analyzed for micro mineral quantification at three phenological stages. Mineral compositions of plants are used to diagnose probable deficiencies in food and forage and nutritional status of plants. Comparison among at vegetative stage of test species and micro nutrients showed that the amount of manganese was found high (64.4mg & &Kg-1) in Chrozophora obliqua. Comparison among at reproductive and post reproductive stages of test species and micro nutrients pointed out that the amount of nickel was found high (67.24mg & Kg-1) and (80.4mg & Kg-1) respectively in Vitex trifolia. It is concluded that micro-minerals concentrations available in these forage plants to the grazing livestock were very low, hence this may be, one of the causes responsible for the pitiable health and productivity of the grazing animals in investigated area.
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Minerales/análisis , Desarrollo de la Planta , Plantas/química , Hojas de la Planta/químicaRESUMEN
The proximate analysis of ten plant species from Tehsil takht-e-Nasrati, district Karak was conducted at three phenological stages using standard techniques. The species showed variable results. In the test species, the moisture content varied from 2.11-14.12 %, 1.85-11.51 and 1.12-11.51%; the ash contents varied from 3.08-17.16%, 5.09-18.12% and 6.13-19.09%; the fibre contents varied from 2.14-11.09%, 2.43-12.31% and 2.78-13.01%; the carbohydrate contents varied from 54-85.1%, (50-84.1) and 47.1-81.1%; the fat contents varied from 1.06-5.46%, 1.09-5.98% and 1.56- 6.57 %; the protein contents varied from 2.11-12.41%, 3.14-15.87% and 4.12-18.54%; the energy value varied from 305.12-394.23 KCal/100g, 314.21-423.13 KCal /100g and 321.23-434.26 KCal /100g at vegetative stage, reproductive stage and post reproductive stage respectively. Proximate analysis of such plant species can help us to determine the health benefits achieved from their use in society. It is concluded that the poor livestock productivity in research area is partially due to insufficient amount of available poor quality forage that requires attention of the range mangers to improve the habitat and livestock breeds.