RESUMEN
BACKGROUND: Peripheral Facial Palsy (PFP) is a facial paralysis with various etiologies, including idiopathic causes (Bell's palsy), infections, trauma, and genetic factors. Traditional treatments involve antiviral medications, corticosteroids, and physiotherapy. However, new therapies, such as Low-Level Laser Therapy (LLLT), are emerging with promising results. METHODS: This case series reports on two patients with PFP treated with LLLT combined with Vitamin B1, B6, and B12 supplementation. The first case involved a 52-year-old female with PFP due to a viral infection. The second case was a 33-year-old male who developed PFP following a traumatic brain injury. Both patients received LLLT sessions every two weeks, targeting 10 points along the facial nerve pathway from the facial notch across the face. The laser device used was the Theraphy EC (DMC, Sao Carlos, SP, Brazil), with each point receiving 4 Joules of energy applied perpendicular to the skin after cleaning the face with water and soap to remove lipids that could interfere. The administration of Vitamin B was done using NEUROBIONTA tablets (Vitamin B1 + Vitamin B6 + Vitamin B12; Procter & Gamble, Santiago, Chile) with one tablet taken daily for 30 days. RESULTS: After six to seven sessions, both patients showed significant improvement in facial muscle function and overall facial symmetry. In the first case, improvements were noted in muscle tonicity and facial movements, with the patient reporting reduced facial disfigurement. In the second case, notable recovery in facial mobility and symmetry was observed, with the patient experiencing decreased paresthesia and restored muscle functionality. CONCLUSION: These findings suggest that LLLT, combined with Vitamin B1, B6, and B12 supplementation, may effectively improve facial muscle function and symmetry in PFP patients. The non-invasive nature and ease of application make LLLT a viable option for PFP treatment. Further studies with larger sample sizes and standardized protocols are necessary to confirm these results and establish LLLT as a standard treatment for PFP.
Asunto(s)
Parálisis Facial , Terapia por Luz de Baja Intensidad , Vitamina B 12 , Humanos , Terapia por Luz de Baja Intensidad/métodos , Masculino , Persona de Mediana Edad , Femenino , Adulto , Vitamina B 12/uso terapéutico , Tiamina/uso terapéutico , Vitamina B 6/uso terapéutico , Complejo Vitamínico B/uso terapéuticoRESUMEN
Alzheimer's disease (AD) is a complex neurodegenerative process, also considered a metabolic condition due to alterations in glucose metabolism and insulin signaling pathways in the brain, which share similarities with diabetes. This study aimed to investigate the therapeutic effects of benfotiamine (BFT), a vitamin B1 analog, in the early stages of the neurodegenerative process in a sporadic model of Alzheimer's-like disease induced by intracerebroventricular injection of streptozotocin (STZ). Supplementation with 150 mg/kg of BFT for 7 days reversed the cognitive impairment in short- and long-term memories caused by STZ in rodents. We attribute these effects to BFT's ability to modulate glucose transporters type 1 and 3 (GLUT1 and GLUT3) in the hippocampus, inhibit GSK3 activity in the hippocampus, and modulate the insulin signaling in the hippocampus and entorhinal cortex, as well as reduce the activation of apoptotic pathways (BAX) in the hippocampus. Therefore, BFT emerges as a promising and accessible intervention in the initial treatment of conditions similar to AD.
Asunto(s)
Enfermedad de Alzheimer , Modelos Animales de Enfermedad , Hipocampo , Insulina , Transducción de Señal , Estreptozocina , Tiamina , Animales , Enfermedad de Alzheimer/tratamiento farmacológico , Enfermedad de Alzheimer/metabolismo , Insulina/metabolismo , Transducción de Señal/efectos de los fármacos , Masculino , Hipocampo/efectos de los fármacos , Hipocampo/metabolismo , Tiamina/farmacología , Tiamina/análogos & derivados , Tiamina/uso terapéutico , Ratas , Cognición/efectos de los fármacos , Ratas Wistar , Aprendizaje por Laberinto/efectos de los fármacosRESUMEN
BACKGROUND: Musculoskeletal disorders are an important cause of work absence. Clinical practice guidelines recommend nonsteroidal anti-inflammatory drugs (NSAIDs) for grade I-II cervical sprains. The combination of thiamine + pyridoxine + cyanocobalamin vitamins has been used, alone and in combination with NSAIDs, for pain and inflammation in musculoskeletal disorders. OBJECTIVE: The objective of this study was to demonstrate the analgesic synergy of dexketoprofen, and the combination of vitamins thiamine + pyridoxine + cyanocobalamin in a fixed-dose combination (FDC) for the treatment of acute pain caused by grade I-II cervical sprains. METHODS: We conducted a multicentre, prospective, randomized, double-blind, phase IIIb clinical study comparing two treatment groups: (1) dexketoprofen 25 mg/vitamin B (thiamine 100 mg, pyridoxine 50 mg and cyanocobalamin 0.50 mg) in an FDC (two or more active ingredients combined in a single dosage form) versus (2) dexketoprofen 25 mg monotherapy (single drug to treat a particular disease), one capsule or tablet orally, every 8 h for 7 days. Final mean, average change, and percentage change in pain perception (measured using a visual analogue scale [VAS]) were compared with baseline between groups. A p value < 0.05 was considered statistically significant. Analyses were conducted using SPSS software, v.29.0. RESULTS: A statistically significant reduction in pain intensity was observed from the third day of treatment with the FDC compared with monotherapy (- 3.1 ± - 1.5 and - 2.6 ± - 1.1 cm, respectively) measured using the VAS (p = 0.011). Regarding the degree of disability, using the Northwick Park Neck Pain Questionnaire (NPQ), statistical difference was observed for the final measurement (7.5%, interquartile range [IQR] 2.5, 10.5; vs. 7.9%, IQR 5.0, 13.8; p = 0.028). A lower proportion of adverse events was reported when using the FDC. CONCLUSIONS: The FDC of dexketoprofen/thiamine + pyridoxine + cyanocobalamin vitamins demonstrated superior efficacy and a better safety profile compared with dexketoprofen monotherapy for pain treatment in patients with grade I-II cervical sprains. CLINICAL TRIALS REGISTRATION: NCT05001555, registered 29 July 2021 ( https://clinicaltrials.gov/study/NCT05001555 ).
Asunto(s)
Antiinflamatorios no Esteroideos , Combinación de Medicamentos , Cetoprofeno , Piridoxina , Tiamina , Trometamina , Vitamina B 12 , Humanos , Método Doble Ciego , Tiamina/administración & dosificación , Tiamina/análogos & derivados , Tiamina/uso terapéutico , Cetoprofeno/administración & dosificación , Cetoprofeno/análogos & derivados , Femenino , Adulto , Piridoxina/administración & dosificación , Piridoxina/uso terapéutico , Masculino , Antiinflamatorios no Esteroideos/administración & dosificación , Vitamina B 12/análogos & derivados , Vitamina B 12/administración & dosificación , Vitamina B 12/uso terapéutico , Persona de Mediana Edad , Trometamina/administración & dosificación , Estudios Prospectivos , Complejo Vitamínico B/administración & dosificación , Complejo Vitamínico B/uso terapéutico , Dimensión del Dolor/métodos , Adulto JovenRESUMEN
Wernicke encephalopathy, which is caused by a thiamine deficiency, occurs in 0.8-2% of the population. Only 16% present the typical triad of this disease: nystagmus, confusion and ataxia. We present the case of a postoperative patient with a one anastomosis gastric bypass with reoperation undergoing a Roux-en-Y gastric bypass that begins with confusion and nystagmus on her third postoperative day. The diagnosis of Wernicke encephalopathy is made by imaging, and vitamin B1 is administered with total improvement of nystagmus and altered state of consciousness (lethargy, bradypsychia, bradylalia).
La encefalopatía de Wernicke se produce por una deficiencia de tiamina se presenta en un 0.8-2% de la población. Solo el 16% de los casos presentan la tríada típica de esta enfermedad: nistagmo, confusión y ataxia. Presentamos el caso de una paciente operada de bypass gástrico de una anastomosis con reintervención convirtiendo a bypass gástrico en Y de Roux que en su tercer día de posoperatorio comienza con confusión y nistagmo. Se realiza por imagen el diagnóstico de encefalopatía de Wernicke se administra vitamina B1 con mejoría total del nistagmo y alteración del estado de consciencia (letargia, bradipsiquia, bradilalia).
Asunto(s)
Derivación Gástrica , Encefalopatía de Wernicke , Humanos , Femenino , Encefalopatía de Wernicke/diagnóstico , Encefalopatía de Wernicke/tratamiento farmacológico , Encefalopatía de Wernicke/etiología , Derivación Gástrica/efectos adversos , Derivación Gástrica/métodos , Tiamina/uso terapéuticoRESUMEN
OBJECTIVE: To develop a predictive model for thiamine responsive disorders (TRDs) among infants and young children hospitalized with signs or symptoms suggestive of thiamine deficiency disorders (TDDs) based on response to therapeutic thiamine in a high-risk setting. STUDY DESIGN: Children aged 21 days to <18 months hospitalized with signs or symptoms suggestive of TDD in northern Lao People's Democratic Republic were treated with parenteral thiamine (100 mg daily) for ≥3 days in addition to routine care. Physical examinations and recovery assessments were conducted frequently for 72 hours after thiamine was initiated. Individual case reports were independently reviewed by three pediatricians who assigned a TRD status (TRD or non-TRD), which served as the dependent variable in logistic regression models to identify predictors of TRD. Model performance was quantified by empirical area under the receiver operating characteristic curve. RESULTS: A total of 449 children (median [Q1, Q3] 2.9 [1.7, 5.7] months old; 70.3% exclusively/predominantly breastfed) were enrolled; 60.8% had a TRD. Among 52 candidate variables, those most predictive of TRD were exclusive/predominant breastfeeding, hoarse voice/loss of voice, cyanosis, no eye contact, and no diarrhea in the previous 2 weeks. The area under the receiver operating characteristic curve (95% CI) was 0.82 (0.78, 0.86). CONCLUSIONS: In this study, the majority of children with signs or symptoms of TDD responded favorably to thiamine. While five specific features were predictive of TRD, the high prevalence of TRD suggests that thiamine should be administered to all infants and children presenting with any signs or symptoms consistent with TDD in similar high-risk settings. The usefulness of the predictive model in other contexts warrants further exploration and refinement. TRIAL REGISTRATION: Clinicaltrials.gov NCT03626337.
Asunto(s)
Pueblos del Sudeste Asiático , Deficiencia de Tiamina , Tiamina , Humanos , Laos/epidemiología , Lactante , Masculino , Femenino , Deficiencia de Tiamina/diagnóstico , Deficiencia de Tiamina/epidemiología , Deficiencia de Tiamina/tratamiento farmacológico , Estudios Prospectivos , Tiamina/uso terapéutico , Tiamina/administración & dosificación , Recién Nacido , Complejo Vitamínico B/uso terapéutico , Complejo Vitamínico B/administración & dosificaciónRESUMEN
Sepsis is a life-threatening condition characterized by multiorgan dysfunction due to an exaggerated host response to infection associated with a homeostatic failure. In sepsis, different interventions, aimed at improving clinical outcomes, have been tested over the past decades. Among these most recent strategies, intravenous high-dose micronutrients (vitamins and/or trace elements) have been investigated. According to current knowledge, sepsis is characterized by low thiamine levels, which are associated with illness severity, hyperlactatemia, and poor clinical outcomes. However, caution is needed about the clinical interpretation of thiamine blood concentration in critically ill patients, and the inflammatory status, based on C-reactive protein levels, should always be measured. In sepsis, parenteral thiamine has been administered as monotherapy or in combination with vitamin C and corticosteroids. Nevertheless, most of those trials failed to report clinical benefits with high-dose thiamine. The purpose of this review is to summarize the biological properties of thiamine and to examine current knowledge regarding the safety and efficacy of high-dose thiamine as pharmaconutrition strategy when administering singly or in combination with other micronutrients in critically ill adult patients with sepsis or septic shock. Our examination of the most up-to-date evidence concludes that Recommended Daily Allowance supplementation is relatively safe for thiamine-deficient patients. However, current evidence does not support pharmaconutrition with high-dose thiamine as a single therapy or as combination therapy aimed at improving clinical outcomes in critically ill septic patients. The best nutrient combination still needs to be determined, based on the antioxidant micronutrient network and the multiple interactions among different vitamins and trace elements. In addition, a better understanding of the pharmacokinetic and pharmacodynamic profiles of intravenous thiamine is needed. Future well-designed and powered clinical trials are urgently warranted before any specific recommendations can be made regarding supplementation in the critical care setting.
Asunto(s)
Sepsis , Choque Séptico , Oligoelementos , Adulto , Humanos , Tiamina/uso terapéutico , Oligoelementos/uso terapéutico , Enfermedad Crítica/terapia , Sepsis/complicaciones , Sepsis/tratamiento farmacológico , Sepsis/diagnóstico , Vitaminas/uso terapéutico , Ácido Ascórbico/uso terapéutico , Micronutrientes/uso terapéuticoRESUMEN
Pain is a complex sensory and emotional experience with nociceptive, nociplastic, and neuropathic components. An involvement of neurotropic B vitamins (B1 - thiamine, B6 - pyridoxine, and B12 - cyanocobalamin) as modulators of inflammation and pain has been long discussed. New evidence suggests their therapeutic potential in different pain conditions. In this review, we discuss the main role of neurotropic B vitamins on different nociceptive pathways in the nervous system and to describe their analgesic action mechanisms. The performed literature review showed that, through different mechanisms, these vitamins regulate several inflammatory and neural mediators in nociceptive and neuropathic pain. Some of these processes include aiming the activation of the descending pain modulatory system and in specific intracellular pathways, anti-inflammatory, antioxidative and nerve regenerative effects. Moreover, recent data shows the antinociceptive, antiallodynic, and anti-hyperalgesic effects of the combination of these vitamins, as well as their synergistic effects with known analgesics. Understanding how vitamins B1, B6, and B12 affect several nociceptive mechanisms can therefore be of significance in the treatment of various pain conditions.
Asunto(s)
Neuralgia , Complejo Vitamínico B , Humanos , Piridoxina/uso terapéutico , Vitamina B 12/uso terapéutico , Tiamina/uso terapéutico , Complejo Vitamínico B/uso terapéutico , Analgésicos/uso terapéutico , Neuralgia/tratamiento farmacológicoRESUMEN
The microsporidia are a large group of intracellular parasites with a broad range of hosts, including humans. Encephalitozoon intestinalis is the second microsporidia species most frequently associated with gastrointestinal disease in humans, especially immunocompromised or immunosuppressed individuals, including children and the elderly. The prevalence reported worldwide in these groups ranges from 0 to 60%. Currently, albendazole is most commonly used to treat microsporidiosis caused by Encephalitozoon species. However, the results of treatment are variable, and relapse can occur. Consequently, efforts are being directed toward identifying more effective drugs for treating microsporidiosis, and the study of new molecular targets appears promising. These parasites lack mitochondria, and oxidative phosphorylation therefore does not occur, which suggests the enzymes involved in glycolysis as potential drug targets. Here, we have for the first time characterized the glycolytic enzyme triosephosphate isomerase of E. intestinalis at the functional and structural levels. Our results demonstrate the mechanisms of inactivation of this enzyme by thiol-reactive compounds. The most striking result of this study is the demonstration that established safe drugs such as omeprazole, rabeprazole and sulbutiamine can effectively inactivate this microsporidial enzyme and might be considered as potential drugs for treating this important disease.
Asunto(s)
Albendazol/uso terapéutico , Proteínas Fúngicas/antagonistas & inhibidores , Microsporidios/efectos de los fármacos , Microsporidiosis/tratamiento farmacológico , Triosa-Fosfato Isomerasa/antagonistas & inhibidores , Secuencia de Aminoácidos , Encephalitozoon/efectos de los fármacos , Encephalitozoon/enzimología , Encephalitozoon/genética , Proteínas Fúngicas/genética , Proteínas Fúngicas/metabolismo , Enfermedades Gastrointestinales/tratamiento farmacológico , Enfermedades Gastrointestinales/microbiología , Regulación Enzimológica de la Expresión Génica/efectos de los fármacos , Regulación Fúngica de la Expresión Génica/efectos de los fármacos , Humanos , Microsporidios/enzimología , Microsporidios/genética , Microsporidiosis/microbiología , Omeprazol/uso terapéutico , Rabeprazol/uso terapéutico , Homología de Secuencia de Aminoácido , Tiamina/análogos & derivados , Tiamina/uso terapéutico , Triosa-Fosfato Isomerasa/genética , Triosa-Fosfato Isomerasa/metabolismoRESUMEN
Systemic lupus erythematosus (SLE) is a chronic inflammatory disease that involves many organs and systems. Nervous system involvement in SLE encompasses neurological and psychiatric disorders, and remains a diagnostic and therapeutic challenge. Wernicke's encephalopathy (WE) is a neurological disorder that occurs as a consequence of thiamine deficiency, and its clinical presentation resembles the neuropsychiatric events attributed to SLE (NPSLE). Differentiation between these two entities is crucial because their treatment differs greatly and can change prognosis. We describe three cases of patients with SLE who presented with initial clinical findings suggestive of NPSLE that, at the end of a thorough clinical investigation, were actually found to represent WE. In all of these cases, treatment with thiamine resulted in significant improvement. WE should be considered as a differential diagnosis in SLE patients with neuropsychiatric signs and symptoms, especially when risk factors for thiamine deficiency are present.
Asunto(s)
Imagen de Difusión por Resonancia Magnética , Lupus Eritematoso Sistémico/diagnóstico , Vasculitis por Lupus del Sistema Nervioso Central/diagnóstico , Encefalopatía de Wernicke/diagnóstico por imagen , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Lupus Eritematoso Sistémico/complicaciones , Vasculitis por Lupus del Sistema Nervioso Central/psicología , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Tiamina/uso terapéutico , Resultado del Tratamiento , Complejo Vitamínico B/uso terapéutico , Encefalopatía de Wernicke/complicaciones , Encefalopatía de Wernicke/tratamiento farmacológico , Encefalopatía de Wernicke/psicologíaRESUMEN
Vitamin B1 (thiamine) plays a fundamental role in the proper functioning of the nervous and cardiovascular systems and in glucose metabolism. Because of the inability of the human body to store large amounts of vitamin, continuous restoration through diet is necessary. In the pediatric population, thiamine deficiency has a broad spectrum of clinical presentations, making diagnosis difficult. In this article, we report the case of a 7-month-old child with thiamine deficiency presented with neurological symptoms and simulation of acute abdomen. The patient received thiamine replacement, which resulted in rapid reversal of metabolic alterations and significant improvement in the signs and symptoms. A detailed investigation of dietary history and careful nutritional assessment of every critically ill pediatric patient is necessary, regardless of the primary cause of hospitalization.
Asunto(s)
Beriberi/etiología , Encéfalo/diagnóstico por imagen , Nutrición Parenteral Total/efectos adversos , Encefalopatía de Wernicke/etiología , Abdomen Agudo/etiología , Dolor Abdominal/complicaciones , Administración Oral , Beriberi/tratamiento farmacológico , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Tiamina/uso terapéutico , Deficiencia de Tiamina , Tomógrafos Computarizados por Rayos X , Resultado del Tratamiento , Encefalopatía de Wernicke/diagnóstico , Encefalopatía de Wernicke/tratamiento farmacológicoRESUMEN
1. Vitamina B1 é essencial para o metabolismo dos hidratos de carbono. 2. O homem depende da ingestão de alimentos para suprir suas necessidades de tiamina. 3. Pequenas deficiências de vitamina B1 podem ser repostas através de alimentação adequada. 4. Grandes deficiências de tiamina ocorrem no alcoolismo e grandes déficits nutricionais.5. Carência crônica de tiamina pode levar a insuficiência cardíaco-congestiva.
Asunto(s)
Humanos , Deficiencia de Tiamina/complicaciones , Deficiencia de Tiamina/diagnóstico , Tiamina/uso terapéutico , Vitaminas Hidrosolubles/administración & dosificación , Vitaminas Hidrosolubles/metabolismoRESUMEN
Beriberi is caused by thiamine deficiency. Early 20th century epidemics in Japan were attributed to rice contaminated by citreoviridin mycotoxin. Our investigation of an outbreak of beriberi in Brazil showed an association of beriberi with the consumption of poor quality subsistence farming rice, although, unlike other investigators of this outbreak, we did not identify citreoviridin producing fungi in the implicated rice.
Asunto(s)
Beriberi/epidemiología , Brotes de Enfermedades , Contaminación de Alimentos/análisis , Oryza/microbiología , Adolescente , Adulto , Beriberi/sangre , Beriberi/tratamiento farmacológico , Brasil/epidemiología , Estudios de Casos y Controles , Cromatografía Líquida de Alta Presión , Femenino , Microbiología de Alimentos , Hongos/aislamiento & purificación , Humanos , Masculino , Persona de Mediana Edad , Micotoxinas/análisis , Factores de Riesgo , Factores Socioeconómicos , Tiamina/sangre , Tiamina/uso terapéutico , Adulto JovenRESUMEN
Métodos: A partir del año 2007 se efectúan estudios en nuestro Instituto para precisar una dosis adecuada de complejo B a aplicar en el Síndrome de Deprivación Alcohólico (Ibáñez y Bustamante) Resultados: Después de tres semanas de tratamiento con benzodiacepina y complejo B (tiamina) según el nuevo protocolo se logra una recuperación motora y mental de un paciente con un Síndrome Korsakoiwideo alcohólico y un cuadro de paraparesia. Conclusión: Los resultados sugieren que la encefalopatía de Wernicke tratada con dosis superiores a 300 mg/diarios de tiamina puede tener un resultado altamente beneficioso para el paciente con síndrome de deprivación alcohólico.
Method: Since 2007, different studies have been made in our Institute, in order to find the right dose of Vitamin B Complex in cases of Alcohol Withdrawal Syndrome (Ibáñez y Bustamante). Results: After a 3 weeks treatment with Benzodiazepine and Vitamin B Complex (Thiamine), according to the new protocol, a patient with Alcoholic Korsakow Syndrome and Paraparesis, recovers his mental and motor functions. Conclusions: Wernickes encephalopathy can be treated with high doses of Thiamine (around 300 mg/a day), on patients with Alcohol Withdrawal Syndrome with highly good results.
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Alcoholismo/complicaciones , Complejo Vitamínico B/uso terapéutico , Encefalopatía de Wernicke/tratamiento farmacológico , Tiamina/uso terapéutico , Alcoholismo/tratamiento farmacológico , Complejo Vitamínico B/administración & dosificación , Síndrome de Abstinencia a Sustancias/complicaciones , Síndrome de Abstinencia a Sustancias/tratamiento farmacológico , Resultado del Tratamiento , Tiamina/administración & dosificaciónRESUMEN
OBJETIVO: Descrever um caso de encefalopatia de Wernicke associada à doença de Crohn na infância. DESCRIÇÃO DO CASO: Menino de cinco anos, com diagnóstico de doença de Crohn por colonoscopia com biópsia há um ano; desde então, fez uso de diversos medicamentos sem resultados terapêuticos. Evoluiu com pancreatite há três meses, quando foi iniciada nutrição parenteral. Apresentou subitamente sonolência, episódios de frases desconexas e alteração da movimentação ocular. O exame neurológico evidenciou nistagmo vertical para cima em todas as posições e nistagmo horizontal no desvio conjugado do olhar. A ressonância magnética do encéfalo mostrou alterações compatíveis com a encefalopatia de Wernicke, sendo instituído o tratamento com tiamina parenteral imediatamente, com reversão completa dos sintomas por volta do 30º dia de tratamento. COMENTÁRIOS: Embora seja uma entidade rara, deve-se suspeitar de encefalopatia de Wernicke frente à presença de fatores de risco, uma vez que o tratamento imediato evita as sequelas neurológicas.
OBJECTIVE: To report a case of Wernicke encephalopathy associated with Crohn disease in childhood. CASE DESCRIPTION: A five year-old boy with Crohn disease, diagnosed by colonoscopy and biopsy one year ago; he has been treated with many different medications without results. During the past year, the patient was diagnosed with pancreatites and has received parenteral nutrition since then. After three months, the child suddenly presented drowsiness, meaningless speech and ocular movement disturbance. Neurologic examination disclosed upbeat nystagmus in all positions and horizontal nystagmus during conjugate deviation of the eyes. Magnetic resonance showed abnormalities consistent with Wernicke encephalopathy. Parenteral thiamine has been administered soon after diagnosis and by the 30th day of treatment, recovery of symptoms was complete. COMMENTS: Despite being a rare entity, neurological symptoms associated to the presence of risk factors such as prolonged parenteral nutrition should suggest Wernicke encephalopathy. Immediate treatment is important to avoid neurological disabilities.
Asunto(s)
Humanos , Masculino , Preescolar , Enfermedad de Crohn/complicaciones , Encefalopatía de Wernicke/complicaciones , Nutrición Parenteral , Tiamina/uso terapéuticoRESUMEN
OBJECTIVE: To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine-responsive megaloblastic anemia, online Mendelian inheritance in man, no. 249270), a recessive disorder of thiamine transporter Slc19A2. STUDY DESIGN: Genomic DNA was purified from blood, and SLC19A2 mutations were characterized by sequencing polymerase chain reaction-amplified coding regions and intron-exon boundaries of all probands. Compound heterozygotes were further analyzed by sequencing parents, or cloning patient genomic DNA, to ascertain that mutations were in trans. RESULTS: We detected 9 novel SLC19A2 mutations. Of these, 5 were missense, 3 were nonsense, and 1 was insertion. Five patients from 4 kindreds were compound heterozygotes, a finding not reported previously for this disorder, which has mostly been found in consanguineous kindreds. CONCLUSION: SLC19A2 mutation sites in TRMA are heterogeneous; with no regional "hot spots." TRMA can be caused by heterozygous compound mutations; in these cases, the disorder is found in outbred populations. To the extent that heterozygous patients were ascertained at older ages, a plausible explanation is that if one or more allele(s) is not null, partial function might be preserved. Phenotypic variability may lead to underdiagnosis or diagnostic delay, as the average time between the onset of symptoms and diagnosis was 8 years in this cohort.
Asunto(s)
Anemia Megaloblástica/genética , Heterocigoto , Proteínas de Transporte de Membrana/genética , Mutación/genética , Tiamina/uso terapéutico , Complejo Vitamínico B/uso terapéutico , Adulto , Anemia Megaloblástica/complicaciones , Anemia Megaloblástica/tratamiento farmacológico , Niño , Preescolar , Estudios de Cohortes , Sordera/etiología , Diabetes Mellitus/etiología , Femenino , Humanos , Lactante , Masculino , FenotipoRESUMEN
Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease.
Asunto(s)
Anemia Megaloblástica/tratamiento farmacológico , Tiamina/uso terapéutico , Complejo Vitamínico B/uso terapéutico , Anemia Megaloblástica/genética , Diabetes Mellitus/tratamiento farmacológico , Diabetes Mellitus/genética , Femenino , Estudios de Seguimiento , Pérdida Auditiva Sensorineural/genética , Humanos , Adulto JovenRESUMEN
Thiamine deficiency may present four classic clinical forms: peripheral polyneuropathy, anorexia and muscular weakness (dry beriberi); high output heart failure with signs of congestion (wet beriberi); beriberi associated with shock (Shoshin beriberi) and Wernicke's encephalopathy. In this report we describe a picture that is suggestive of severe pulmonary hypertension and cor pulmonale, with jugular stasis, congestive hepatitis and generalized edema that reversed completely after the administration of thiamine.
Asunto(s)
Beriberi/complicaciones , Hipertensión Pulmonar/etiología , Enfermedad Cardiopulmonar/etiología , Tiamina/uso terapéutico , Adulto , Beriberi/tratamiento farmacológico , Humanos , Masculino , Enfermedad Cardiopulmonar/tratamiento farmacológico , Deficiencia de Tiamina/complicaciones , Deficiencia de Tiamina/tratamiento farmacológico , Complejo Vitamínico B/uso terapéuticoRESUMEN
A deficiência de tiamina pode apresentar quatro formas clássicas de apresentação clínica: polineuropatia periférica, anorexia e fraqueza muscular (beribéri seco); insuficiência cardíaca de alto débito com sinais congestivos (beribéri úmido); beribéri associado ao choque (Shoshin beribéri) e encefalopatia de Wernicke. Neste relato, descrevemos quadro sugestivo de hipertensão pulmonar grave e cor pulmonale, com estase jugular, hepatite congestiva e edema generalizado, que apresentou reversão completa após administração de tiamina.
Thiamine deficiency may present four classic clinical forms: peripheral polyneuropathy, anorexia and muscular weakness (dry beriberi); high output heart failure with signs of congestion (wet beriberi); beriberi associated with shock (Shoshin beriberi) and Wernicke's encephalopathy. In this report we describe a picture that is suggestive of severe pulmonary hypertension and cor pulmonale, with jugular stasis, congestive hepatitis and generalized edema that reversed completely after the administration of thiamine.