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HYOU1 encodes a protein from the endoplasmic reticulum chaperone proteins, expressed to protect cellular mechanisms from stress such as hypoxia, insufficient energy and excessive or insufficient substances, and to restore cell homeostasis. In this study, we report a novel pathogenic variant in HYOU1. The proband, the second patient with pathogenic variant in HYOU1, was a female born to consanguineous parents. A novel homozygous pathogenic variant in HYOU1 (NM_001130991.3: c.1456C>T; p.Arg486Cys) was identified, causing anemia, thrombocytopenia and severe panleukopenia and immunodeficiency in the second month of age, leading to consistent high-grade fever, regression of brain functions and recurrent infections; ultimately resulting in the patient expiring at three and half months of age. Both parents are heterozygous for this variant and have no issues related to this study.
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Proteínas HSP70 de Choque Térmico , Síndromes de Inmunodeficiencia , Pancitopenia , Femenino , Proteínas HSP70 de Choque Térmico/genética , Homocigoto , Humanos , Síndromes de Inmunodeficiencia/complicaciones , Síndromes de Inmunodeficiencia/genética , Lactante , Mutación , Pancitopenia/genética , ReinfecciónRESUMEN
BACKGROUND: Solid organ transplant recipients are vulnerable to various unusual infections. Visceral Leishmaniasis (VL) is a protozoal opportunistic infection, which may affect the immune-suppressed hosts and solid organ transplant recipients. The BK virus infection is an evolving challenge in kidney transplant recipients. However, there are very few reports of BK virus (BKV) nephropathy involving the native kidney in liver transplant recipients. To the best of our knowledge, this is the first report of the simultaneous occurrence of these rare infections in a liver transplant recipient. CASE REPORT: The patient was a 9-year-old girl, a case of liver transplantation who presented with the incidental finding of proteinuria, azotemia, and cytopenia. Investigations revealed that she had concomitant BKV nephropathy and visceral leishmaniasis. Both infections were successfully treated. CONCLUSION: BK virus should be considered as a cause of nephropathy in liver transplant recipients. The presenting features of fever, cytopenia, and splenomegaly in a post-transplant patient should remind of unusual infections such as VL other than the common post-transplant conditions.
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Leishmaniasis Visceral/complicaciones , Leishmaniasis Visceral/tratamiento farmacológico , Trasplante de Hígado , Infecciones por Polyomavirus/tratamiento farmacológico , Infecciones por Polyomavirus/virología , Infecciones Tumorales por Virus/tratamiento farmacológico , Infecciones Tumorales por Virus/virología , Anfotericina B/administración & dosificación , Antihipertensivos/administración & dosificación , Antiprotozoarios/administración & dosificación , Virus BK , Niño , Quimioterapia Combinada , Femenino , Humanos , Inmunosupresores/administración & dosificación , Hallazgos Incidentales , Infecciones Oportunistas/tratamiento farmacológico , Infecciones Oportunistas/virología , Carga ViralRESUMEN
Novel coronavirus (severe acute respiratory syndrome-coronavirus-2: SARS-CoV-2), which originated from Wuhan, China, has spread to the other countries in a short period of time. We report a 47-year-old male who was admitted to our hospital due to suffering from progressive vertigo and ataxia for 7 days prior to the admission. Neurological examination revealed cerebellar dysfunction, and brain magnetic resonance imaging (MRI) depicted edema of the cerebellar hemisphere associated with leptomeningeal enhancement. Cerebrospinal fluid (CSF) analysis showed mild lymphocytic pleocytosis, elevated protein, and lactate dehydrogenase. SARS-CoV-2 RNA was detected in the oropharyngeal/nasopharyngeal and CSF specimens. As a result, treatment with lopinavir/ritonavir was initiated, and patient symptoms and signs improved significantly during the course of hospitalization. To the best of our knowledge, this is the first case of acute cerebellitis associated with COVID-19 disease which is reported in the literature so far.
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Betacoronavirus , Enfermedades Cerebelosas/complicaciones , Enfermedades Cerebelosas/diagnóstico por imagen , Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/diagnóstico por imagen , Neumonía Viral/complicaciones , Neumonía Viral/diagnóstico por imagen , Enfermedad Aguda , COVID-19 , Humanos , Masculino , Persona de Mediana Edad , Pandemias , SARS-CoV-2RESUMEN
BACKGROUND: In March 2020, the WHO declared the novel coronavirus (COVID-19) outbreak a global pandemic. Although the number of infected cases is increasing, information about its clinical characteristics in the Middle East, especially in Iran, a country which is considered to be one of the most important focal points of the disease in the world, is lacking. To date, there is no available literature on the clinical data on COVID-19 patients in Iran. METHODS: In this multicenter retrospective study, 113 hospitalized confirmed cases of COVID-19 admitted to university affiliated hospitals in Shiraz, Iran from February 20 to March 20 were entered in the study. RESULTS: The mean age was 53.75 years and 71 (62.8%) were males. The most common symptoms at onset were fatigue (75: 66.4%), cough (73: 64.6%), and fever (67: 59.3%). Laboratory data revealed significant correlation between lymphocyte count (P value = 0.003), partial thromboplastin time (P value = 0.000), international normalized ratio (P value = 0.000) with the severity of the disease. The most common abnormality in chest CT scans was ground-glass opacity (77: 93.9%), followed by consolidation (48: 58.5%). Our results revealed an overall 8% (9 out of 113 cases) mortality rate among patients, in which the majority was among patients admitted to the ICU (5: 55.6%). CONCLUSION: Evaluating the clinical data of COVID-19 patients and finding the source of infection and studying the behavior of the disease is crucial for understanding the pandemic.
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Betacoronavirus/fisiología , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/patología , Neumonía Viral/epidemiología , Neumonía Viral/patología , Adulto , Factores de Edad , COVID-19 , Comorbilidad , Infecciones por Coronavirus/diagnóstico , Infecciones por Coronavirus/tratamiento farmacológico , Brotes de Enfermedades , Femenino , Hospitalización , Humanos , Irán/epidemiología , Masculino , Persona de Mediana Edad , Pandemias , Neumonía Viral/diagnóstico , Neumonía Viral/tratamiento farmacológico , Estudios Retrospectivos , SARS-CoV-2 , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
AIM: Drug-induced kidney proximal tubular injury and renal failure (Fanconi syndrome; FS) is a clinical complication. Valproic acid (VPA) is among the FS-inducing drugs. The current investigation was designed to evaluate the role of mitochondrial dysfunction and oxidative stress in VPA-induced renal injury. METHODS: Animals received VPA (250 and 500 mg/kg, i.p., 15 consecutive days). Serum biomarkers of kidney injury and markers of oxidative stress were assessed. Moreover, kidney mitochondria were isolated and mitochondrial indices, including succinate dehydrogenase activity (SDA), mitochondrial depolarization, mitochondrial permeability transition pore (MPP), reactive oxygen species (ROS), lipid peroxidation (LPO), mitochondrial glutathione, and ATP were determined. RESULTS: Valproic acid-treated animals developed biochemical evidence of FS as judged by elevated serum gamma-glutamyl transferase (γ-GT), alkaline phosphatase (ALP), creatinine (Cr), and blood urea nitrogen (BUN) along with hypokalaemia, hypophosphataemia, and a decrease in serum uric acid. VPA caused an increase in kidney ROS and LPO. Renal GSH reservoirs were depleted and tissue antioxidant capacity decreased in VPA-treated animals. Renal tubular interstitial nephritis, tissue necrosis, and atrophy were also evident in VPA-treated rats. Mitochondrial parameters including SDA, MMP, GSH, ATP and MPP were decreased and mitochondrial ROS and LPO were increased with VPA treatment. It was found that carnitine (100 mg/kg, i.p.) mitigated VPA adverse effects towards the kidney. CONCLUSIONS: These data suggest that mitochondrial dysfunction and oxidative stress contributed to the VPA-induced FS. On the other hand, carnitine could be considered a potentially safe and effective therapeutic option in attenuating VPA-induced renal injury.
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Síndrome de Fanconi/metabolismo , Túbulos Renales Proximales/metabolismo , Mitocondrias/metabolismo , Estrés Oxidativo , Ácido Valproico , Adenosina Trifosfato/metabolismo , Animales , Atrofia , Modelos Animales de Enfermedad , Síndrome de Fanconi/inducido químicamente , Síndrome de Fanconi/patología , Glutatión/metabolismo , Túbulos Renales Proximales/patología , Peroxidación de Lípido , Masculino , Potencial de la Membrana Mitocondrial , Mitocondrias/patología , Proteínas de Transporte de Membrana Mitocondrial/metabolismo , Poro de Transición de la Permeabilidad Mitocondrial , Necrosis , Ratas Sprague-Dawley , Especies Reactivas de Oxígeno/metabolismo , Succinato Deshidrogenasa/metabolismoRESUMEN
Sulfasalazine is a commonly used drug for the treatment of rheumatoid arthritis and inflammatory bowel disease. There are several cases of renal injury encompass sulfasalazine administration in humans. The mechanism of sulfasalazine adverse effects toward kidneys is obscure. Oxidative stress and its consequences seem to play a role in the sulfasalazine-induced renal injury. The current investigation was designed to investigate the effect of sulfasalazine on kidney mitochondria. Rats received sulfasalazine (400 and 600 mg/kg/day, oral) for 14 consecutive days. Afterward, kidney mitochondria were isolated and assessed. Sulfasalazine-induced renal injury was biochemically evident by the increase in serum blood urea nitrogen (BUN), gamma-glutamyl transferase (γ-GT), and creatinine (Cr). Histopathological presentations of the kidney in sulfasalazine-treated animals revealed by interstitial inflammation, tubular atrophy, and tissue necrosis. Markers of oxidative stress including an increase in reactive oxygen species (ROS) and lipid peroxidation (LPO), a defect in tissue antioxidant capacity, and glutathione (GSH) depletion were also detected in the kidney of sulfasalazine-treated groups. Decreased mitochondrial succinate dehydrogenase activity (SDA), mitochondrial depolarization, mitochondrial GSH depletion, increase in mitochondrial ROS, LPO, and mitochondrial swelling were also evident in sulfasalazine-treated groups. Current data suggested that oxidative stress and mitochondrial injury might be involved in the mechanism of sulfasalazine-induced renal injury.
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Lesión Renal Aguda/inducido químicamente , Riñón/patología , Mitocondrias/efectos de los fármacos , Sulfasalazina/efectos adversos , Lesión Renal Aguda/sangre , Administración Oral , Animales , Antioxidantes/metabolismo , Artritis Reumatoide/tratamiento farmacológico , Biomarcadores/sangre , Biomarcadores/metabolismo , Nitrógeno de la Urea Sanguínea , Creatinina/sangre , Modelos Animales de Enfermedad , Glutatión/metabolismo , Humanos , Enfermedades Inflamatorias del Intestino/tratamiento farmacológico , Riñón/citología , Riñón/efectos de los fármacos , Peroxidación de Lípido/efectos de los fármacos , Masculino , Mitocondrias/metabolismo , Estrés Oxidativo/efectos de los fármacos , Ratas , Ratas Sprague-Dawley , Especies Reactivas de Oxígeno/metabolismo , gamma-Glutamiltransferasa/sangreRESUMEN
Sulfasalazine is widely used for inflammatory-mediated disorders in human. Renal damage is a serious adverse effect accompanied sulfasalazine administration. No specific therapeutic option is available against this complication so far. Oxidative stress seems to play a role in sulfasalazine-induced renal injury. Current investigation was designed to evaluate the effect of N-acetyl cysteine (NAC) and dithiothreitol (DTT) as thiol reductants against sulfasalazine-induced renal injury in rats. Oral administration of sulfasalazine (600 mg/kg for 14 consecutive days) caused renal injury as judged by increase in serum level of creatinine and blood urea nitrogen. Furthermore, the level of reactive oxygen species and lipid peroxidation were raised in kidney tissue after sulfasalazine administration. Additionally, it was also found that renal glutathione reservoirs were significantly depleted in sulfasalazine-treated animals. Histopathological examination of kidney endorsed organ injury in drug-treated rats. Daily intraperitoneal administration of NAC (250 and 500 mg/kg/day) and/or DTT (15 and 30 mg/kg/day) effectively alleviated renal damage induced by sulfasalazine. Data suggested that thiol reductants could serve as potential protective agents with therapeutic capabilities against sulfasalazine adverse effect toward kidney.
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Acetilcisteína/uso terapéutico , Lesión Renal Aguda/prevención & control , Antirreumáticos/efectos adversos , Ditiotreitol/uso terapéutico , Depuradores de Radicales Libres/uso terapéutico , Sulfasalazina/efectos adversos , Acetilcisteína/farmacología , Lesión Renal Aguda/inducido químicamente , Animales , Ditiotreitol/farmacología , Evaluación Preclínica de Medicamentos , Depuradores de Radicales Libres/farmacología , Masculino , Distribución Aleatoria , Ratas Sprague-DawleyRESUMEN
Arteriovenous hemangioma is a rare, benign vascular lesion that presents with an asymptomatic red or violaceous papule which is frequently asymptomatic but pruritus, pain and enlargement may be seen in some patients. In histology it is composed of thick-walled and thin-walled blood vessels distributed in superficial and mid dermis. The treatment of choice in such cases is complete excision and recurrence is rare. In this article we describe an acquired form of arteriovenous hemangioma on the nose of a middle-aged man.
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Key Clinical Message: This case highlights the diagnostic pitfalls that can occur when evaluating complex cystic renal masses. Distinguishing epidermoid cysts from renal cell carcinoma is difficult but imperative to guide conservative management when appropriate, avoiding unnecessary nephrectomy. Abstract: Renal epidermoid cysts are extremely rare, with only 12 cases reported in the literature. Their radiographic features often resemble cystic renal cell carcinoma, frequently prompting unnecessary nephrectomy. A 64-year-old man with a history of nephrolithiasis presented with left flank pain and hematuria. Imaging revealed a complex cystic renal mass suspicious for renal cell carcinoma. Following left radical nephrectomy, histopathology examination revealed a benign epidermoid cyst. Renal presentation of epidermoid cyst poses unique diagnostic and therapeutic challenges. Possible pathogenesis includes ectopic epidermal implantation during embryogenesis or squamous metaplasia following chronic irritation or deficiency. Radiographic distinction from concerning entities like renal cell carcinoma is difficult but imperative to avoid extensive surgery. This case highlights the diagnostic pitfalls and management considerations for renal epidermoid cysts. Additional study of clinical and imaging factors that distinguish epidermoid cysts from renal cell carcinoma can guide conservative management when appropriate, avoiding unnecessary nephrectomy for benign disease.
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Background & Objective: The TSH reference range's validity affects the thyroid dysfunction diagnosis. The primary objective of this study is to determine the reference range, which is established according to age and region. Methods: The data were collected retrospectively from people over the age of one who visited Motahari Clinic for routine health checkups between August 2017 and October 2019. TSH, T4, T3, personal drug usage, and thyroid history were collected. After excluding subjects with thyroid diseases and outliers, 1392 participants were analyzed. Hormone intervals of men and women ≥1 year old have been determined using the non-parametric method. Results: The non-disease subjects' TSH, T3, and T4 reference ranges were 0.64 to 5.94 lU/mL, 0.91 to 2.47 ng/dL, and 5.53 to 12.48 g/dL, respectively. According to this range, total thyroid dysfunction prevalence in our study in children was 8.94%. There was no significant difference between TSH, T4 level, and gender in the non-disease population (P=0.46 and 0.13, respectively), but there was a statistical difference between sex and T3 (P =0.03). Our study also illustrates that for subjects under 18 years old and older, the hormones (TSH, T3, T4) concentration are statistically different (P≤0.001). Conclusion: We found a statistically difference between hormone values younger and older than age 18 (P=≤0.01); therefore, it is not appropriate to use the same reference range for children younger than age 18 and adults. There was male predominance in the population aged1-18 years old.
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Despite the whole world's effort for controlling an ongoing global outbreak caused by new corona virus; it is still a major public health issue. Any hospitalized patient or outpatient in burn departments should be considered as a potential infectious source of COVID-19, which may cause an overwhelming of disease. However, there are no previous experiences about COVID-19 in burn patients all over the world, and here we reported two burn cases at Amir-al-Momenin Burn Hospital Affiliated to Shiraz University of Medical Sciences, Shiraz, Iran with skin manifestations, which were detected as a rarely COVID-19 symptom. A 13-year-old girl [total body surface area (TBSA): 18%] and a 37-year-old woman (TBSA: 30%) who had burn injuries by gas explosion and car accident, respectively were enrolled. After admission, some vesicular injuries were visible in burn area. To confirm, skin biopsy specimens were either sent for histopathology examination or for real time polymerase chain reaction (PCR) as follow: Herpes Simplex Virus (HSV), chicken pox, and potassium hydroxide (KOH) for fungal infections. All test results were negative. Although they had no symptoms of COVID-19, two swabs from nasopharyngeal and oropharyngeal samplings were taken, the result was negative either. Specimens were obtained from vesicular lesions for qRT-PCR assay of COVID-19. According to the molecular results for vesicular samples, all the results were positive for COVID-19. Unlike all other COVID-19 patients who have respiratory symptoms, SARS-COV-2 appeared by cutaneous vesicular and blisters in two burn cases.
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Lead (Pb)-induced reproductive toxicity is a well-characterized adverse effect associated with this heavy metal. It has been found that Pb exposure is associated with altered spermatogenesis, increased testicular degeneration, and pathological sperm alterations. On the other hand, it has been reported that Pb-induced reproductive toxicity is associated with increased reactive oxygen species (ROS) formation and diminished antioxidant capacity in the reproductive system. Hence, administration of antioxidants as protective agents might be of value against Pb-induced reproductive toxicity. This study was designed to investigate whether carnosine (CAR) and histidine (HIS) supplementation would mitigate the Pb-induced reproductive toxicity in male rats. Animals received Pb (20 mg/kg/day, oral, 14 consecutive days) alone or in combination with CAR (250 and 500 mg/kg/day, oral, 14 consecutive days) or HIS (250 and 500 mg/kg/day, oral, 14 consecutive days). Pb toxicity was evident in the reproductive system by a significant increase in tissue markers of oxidative stress along with severe histopathological changes, seminal tubule damage, tubular desquamation, low spermatogenesis index, poor sperm parameters, and impaired sperm mitochondrial function. It was found that CAR and HIS supplementation blunted the Pb-induced oxidative stress and mitochondrial dysfunction in the rat reproductive system. Thereby, antioxidative and mitochondria-protective properties serve as primary mechanisms for CAR and HIS against Pb-induced reproductive toxicity.
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Carnosina/farmacología , Histidina/farmacología , Mitocondrias/efectos de los fármacos , Compuestos Organometálicos/antagonistas & inhibidores , Sustancias Protectoras/farmacología , Espermatozoides/efectos de los fármacos , Animales , Antioxidantes/metabolismo , Carnosina/administración & dosificación , Suplementos Dietéticos , Histidina/administración & dosificación , Masculino , Mitocondrias/metabolismo , Compuestos Organometálicos/toxicidad , Sustancias Protectoras/administración & dosificación , Ratas , Ratas Sprague-DawleyRESUMEN
Spontaneous Retroperitoneal hemorrhage in pregnancy is a rare condition. Renal angiomyolipoma (RA) is the most common cause of this hemorrhage. To the best of our knowledge, this is the first reported case of Wunderlich syndrome (WS) due to renal cell carcinoma (RCC) diagnosed in the second trimester of pregnancy.
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Carcinoma de Células Renales/cirugía , Hemorragia/cirugía , Neoplasias Renales/cirugía , Complicaciones Neoplásicas del Embarazo/cirugía , Carcinoma de Células Renales/diagnóstico , Femenino , Dolor en el Flanco/etiología , Hemorragia/etiología , Humanos , Neoplasias Renales/diagnóstico , Nefrectomía , Embarazo , Complicaciones Neoplásicas del Embarazo/diagnóstico , Espacio Retroperitoneal , Rotura Espontánea/cirugía , Choque/etiología , Síndrome , Adulto JovenRESUMEN
INTRODUCTION: Sulfasalazine is a drug commonly administrated against inflammatory-based disorders. On the other hand, kidney and liver injury are serious adverse events accompanied by sulfasalazine administration. No specific therapeutic option is available against this complication. The current investigation was designed to evaluate the potential protective effects of taurine against sulfasalazine-induced kidney and liver injury in rats. METHODS: Male Sprague-Dawley rats were administered with sulfasalazine (600 mg/kg, oral) for 14 consecutive days. Animals received different doses of taurine (250, 500 and 1000 mg/ kg, i.p.) every day. Markers of organ injury were evaluated on day 15(th), 24 h after the last dose of sulfasalazine. RESULTS: Sulfasalazine caused renal and hepatic injury as judged by an increase in serum level of creatinine (Cr), alanine aminotransferase (ALT), aspartate aminotransferase (AST), lactate dehydrogenase (LDH), and alkaline phosphatase (ALP). The levels of reactive oxygen species (ROS) and lipid peroxidation were raised in kidney and liver of sulfasalazine-treated animals. Moreover, tissue glutathione reservoirs were depleted after sulfasalazine administration. Histopathological changes of kidney and liver also endorsed organ injury. Taurine administration (250, 500 and 1000 mg/kg/day, i.p) alleviated sulfasalazine-induced renal and hepatic damage. CONCLUSION: Taurine administration could serve as a potential protective agent with therapeutic capabilities against sulfasalazine adverse effects.