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OBJECTIVES: To evaluate the prevalence of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infections among patients receiving in-center hemodialysis (ICHD), the relationship between the IgG antibody levels against the virus and SARS-CoV-2-associated symptoms, hemodialysis adequacy, and the antihypertensives used in order to control blood pressure. METHODS: A prospective observational study was carried out at a tertiary care center, King Fahad Kidney Center, Riyadh, Kingdom of Saudi Arabia, between November 2020 and January 2021. A total of 214 ICHD patients with end-stage renal disease (ESRD) were included, and the levels of their anti-SARS-CoV-2 IgG antibodies were assessed after obtaining their informed consent. RESULTS: Our tests indicated that 15% of the patients in the study's population had detectable SARS-CoV-2 IgG antibodies, with more than half of them (53%) being asymptomatic. We also found that ESRD patients on angiotensin converting enzyme inhibitors or angiotensin receptor blockers (ACEIs/ARBs) had higher levels of SARS-CoV-2 IgG antibodies than patients not receiving this group of medications. CONCLUSION: More studies are required to assess whether patients with a SARS-CoV-2 infection that do not have an indication for being prescribed ACEIs/ARBs would benefit from receiving these medications.
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COVID-19 , Falência Renal Crônica , Humanos , Imunoglobulina G , Renina , Antagonistas de Receptores de Angiotensina/uso terapêutico , SARS-CoV-2 , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Diálise Renal , Anticorpos Antivirais , AngiotensinasRESUMO
The gold-standard approach for diagnosing and confirming Severe Acute Respiratory Syndrome Corona Virus-2 (SARS-CoV-2) infection is reverse transcription-polymerase chain reaction (RT-PCR). This method, however, is inefficient in detecting previous or dormant viral infections. The presence of antigen-specific antibodies is the fingerprint and cardinal sign for diagnosis and determination of exposure to infectious agents including Corona virus disease-2019 (COVID-19). This cross-sectional study examined the presence of SARS-CoV-2 spike-specific immunoglobulin G (IgG) among asymptomatic blood donors in Makkah region. A total of 4368 asymptomatic blood donors were enrolled. They were screened for spike-specific IgG using ELISA and COVID-19 RNA by real-time PCR. COVID-19 IgG was detected among 2248 subjects (51.5%) while COVID-19-RNA was detected among 473 (10.8%) subjects. The IgG frequency was significantly higher among males and non-Saudi residents (p < 0.001 each) with no significant variation in IgG positivity among blood donors with different blood groups. In addition, COVID-19 RNA frequency was significantly higher among donors below 40-years old (p = 0.047, χ2 = 3.95), and non-Saudi residents (p = 0.001, χ2 = 304.5). The COVID-19 IgG levels were significantly higher among the RNA-positive donors (p = 001), and non-Saudi residents (p = 0.041), with no variations with age or blood group (p > 0.05). This study reveals a very high prevalence of COVID-19 IgG and RNA among asymptomatic blood donors in Makkah, Saudi Arabia indicating a high exposure rate of the general population to COVID-19; particularly foreign residents. It sheds light on the spread on COVID-19 among apparently healthy individuals at the beginning of the pandemic and could help in designing various control measures to minimize viral spread.
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Objective This study aimed to determine the persistence of induced immunity against hepatitis B virus (HBV) among adults routinely vaccinated during their infancy and correlate the level of induced immunity with participant characteristics. Methodology This was a cross-sectional study conducted among visitors to primary care centers of the Ministry of Health (MOH) in Riyadh, the Kingdom of Saudi Arabia (KSA) during the period from August 2020 to January 2021. The study population included healthy adults of both genders who had received full doses of the HBV vaccine in infancy. Data related to participant characteristics were collected using a self-administered questionnaire. A blood sample was then taken from each participant to measure the serum level of hepatitis B surface antigen (HBsAg), antibodies against HBsAg (anti-HBs), and antibodies against hepatitis B core antigen (ani-HBc). Results A total of 400 subjects participated in the study; the mean age of the cohort was 25 years. Almost all of them were Saudis (99.30%), and more than half (57.50%) were males. Only 24.30% had an anti-HBs antibodies level of ≥10 IU/L, and all respondents were negative for HBs antigen. No significant association between participant characteristics and anti-HBs antibody levels was found. Conclusion A decline in immunity many years after HBV vaccinations taken in infancy has been well-documented. However, for low-risk populations, the boosting of HBV vaccines is probably unnecessary since the immune memory provides sufficient protection despite low or undetectable anti-HBs antibodies.
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OBJECTIVES: This study aimed to examine the association between normative and subjective oral health indicators and frailty assessed by Frailty Phenotype (FP) and frailty index (FI) among older Saudi adults. DESIGN: cross-sectional study. SETTING: community and hospital-based. PARTICIPANTS: participants were 356 community-dwelling older adults attending dental clinics and social centres at Madinah, Saudi Arabia. METHODS: Frailty was measured with the frailty phenotype and a 34-item FI. Oral health included the following measures: self-rated oral health, number of teeth, and functional dentition. Covariates included sociodemographic factors and nutritional status. Logistic regression and negative binomial regression models were constructed to test the association between oral health indicators, FP, and FI, respectively. The first model was adjusted for demographic and socioeconomic factors, the second model was additionally adjusted for nutritional status. RESULTS: The number of teeth, functional dentition and self-rated oral health showed significant associations with frailty after adjusting for demographic and socioeconomic variables for both FP and FI. Adjusting for nutritional status attenuated the associations. CONCLUSION: This study has shown significant associations between oral health indicators namely number of teeth, functional dentition and self-rated oral health, and both FP and FI among Saudi older adults. Nutritional status appeared to mediate the association between oral health and frailty implicating inability to eat in this relationship.
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Idoso Fragilizado/estatística & dados numéricos , Fragilidade/epidemiologia , Avaliação Geriátrica/métodos , Saúde Bucal/normas , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Masculino , Arábia SauditaRESUMO
The prevalence of obesity is increasing in Saudi Arabia and although caries is associated with obesity, this association has not been investigated in Medina. This study aimed to determine the association between dental caries, body mass index (BMI) and dietary habits of 12-year-old boys from four geographically distinct schools in Medina. Mean BMI was 22.17 kg/m² (± 5.15); 41% had normal BMI, 25% were overweight and 30% were obese. The mean Decayed, Missing and Filled Teeth (DMFT) score was 1.46 (± 2.04). Those in the normal BMI range had a significantly higher prevalence of caries (57%) and DMFT score (1.92) compared with the overweight and obese groups (P < 0.05). These differences remained significant after controlling for possible confounders via linear regression. Mean BMI was significantly lower in boys with severe compared with mild or no caries. Normal and underweight participants had an almost 2 times greater risk of developing caries compared with their overweight and obese counterparts. The children had poor dietary habits and there were no significant associations between dietary variables and caries.
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Índice de Massa Corporal , Cárie Dentária/epidemiologia , Comportamento Alimentar , Criança , Estudos Transversais , Cárie Dentária/diagnóstico , Humanos , Masculino , Obesidade/epidemiologia , Arábia Saudita/epidemiologia , Inquéritos e QuestionáriosRESUMO
The prevalence of obesity is increasing in Saudi Arabia and although caries is associated with obesity, this association has not been investigated in Medina. This study aimed to determine the association between dental caries, body mass index [BMI] and dietary habits of 12-year-old boys from four geographically distinct schools in Medina. Mean BMI was 22.17 kg/m[2] [ +/- 5.15]; 41% had normal BMI, 25% were overweight and 30% were obese. The mean Decayed, Missing and Filled Teeth [DMFT] score was 1.46 [ +/- 2.04]. Those in the normal BMI range had a significantly higher prevalence of caries [57%] and DMFT score [1.92] compared with the overweight and obese groups [P < 0.05]. These differences remained significant after controlling for possible confounders via linear regression. Mean BMI was significantly lower in boys with severe compared with mild or no caries. Normal and underweight participants had an almost 2 times greater risk of developing caries compared with their overweight and obese counterparts. The children had poor dietary habits and there were no significant associations between dietary variables and caries
La prévalence de l'obésité augmente en Arabie saoudite et malgré le lien qui existe entre la carie et l'obésité, cette association n'a pas été étudiée à Médine. La présente étude avait pour objectif de déterminer l'association entre les caries dentaires, l'indice de masse corporelle [IMC] et les habitudes alimentaires de garçons âgés de 12 ans venant de quatre écoles géographiquement distinctes à Médine. L'IMC moyen était de 22,17 kg/m[2] [+/- 5,15]; 41% avaient un IMC normal, 25% étaient en surcharge pondérale et 30% étaient obèses. Le score moyen de l'indice CAO [dent cariée, absente ou obturée] s'élevait à 1,46 [+/- 2,04]. Les garçons dont l'IMC se situait dans les valeurs normales avaient un prévalence de la carie [57%] et un indice CAO supérieurs [1,92] à ceux du groupe des enfants en surcharge pondérale et souffrant d'obésité [p < 0,05]. Ces différences demeuraient significatives après avoir contrôlé d'autres facteurs de confusion potentiels grâce à la régression linéaire. L'IMC moyen était considérablement plus faible chez les garçons ayant des caries sévères par rapport à ceux qui avaient des caries bénignes ou qui n'en avaient pas. Les participants de poids normal ou présentant une insuffisance pondérale avaient un risque deux fois plus important de développer des caries que ceux qui étaient en surcharge pondérale ou obèses. Les enfants avaient de mauvaises habitudes alimentaires et il n'y avait aucune association entre les variables alimentaires et les caries
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Doenças não Transmissíveis , Cárie Dentária , Dieta , Índice de Massa Corporal , Prevalência , Estudos Transversais , Índice CPORESUMO
INTRODUCTION: The respective roles of hypocalcemia and intracerebral calcifications in the occurrence of various neurological manifestations in hypoparathyroidism is not entirely clear. Nevertheless, therapeutic and prognostic implications are important. OBJECTIVES: We analyze the neurological clinical aspects observed in hypoparathyroidism and correlate them to the biological calcium abnormality and radiological CT scan findings. We also compare these results with data reported in the idiopathic form of striatopallidodentate calcinosis. PATIENTS: The neurological clinical, CT scan findings and outcome have been retrospectively studied in patients recruited during 13 years (2000-2012) for neurological features associated with hypoparathyroidism or pseudohypoparathyroidism. RESULTS: Twelve patients with primary hypoparathyroidism (n=5), secondary to thyroidectomy (n=4) and pseudohypoparathyroidism (n=3) were studied. The sex-ratio was 1 and mean age was 39 years. All patients had a tetany, 60% had epilepsy, associated in one patient with "benign" intracranial hypertension; 50% had behavioral changes. Response to calcium therapy was excellent for all these events. Moderate cognitive deficit was noted in three patients (25%), parkinsonism in two patients and hyperkinetic movement disorders in one other. These events were not responsive to calcium therapy and were more common in cases of extensive brain calcifications and in patients who had pseudohypoparathroidism. COMMENTS: This study suggests that, in patients with hypoparathyroidism, epilepsy and psychiatric disorders are induced by hypocalcemia and reversible after its correction. Cognitive and extrapyramidal impairment seem to be related to the progressive extension of intracerebral calcification, particularly in patients with a late diagnosis. In patients with pseudohypoparathyroidism, this finding is different because of the contribution of other factors, specific to this disease.
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Encefalopatias/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Hipoparatireoidismo/diagnóstico por imagem , Adolescente , Adulto , Idoso , Encefalopatias/epidemiologia , Encefalopatias/etiologia , Calcinose/epidemiologia , Calcinose/etiologia , Estudos de Coortes , Corpo Estriado/diagnóstico por imagem , Feminino , Humanos , Hipoparatireoidismo/complicações , Hipoparatireoidismo/epidemiologia , Masculino , Pessoa de Meia-Idade , Neuroimagem/métodos , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto JovemAssuntos
Hemiplegia/diagnóstico , Anticonvulsivantes/uso terapêutico , Encéfalo/patologia , Pré-Escolar , Eletroencefalografia , Hemiplegia/tratamento farmacológico , Hemiplegia/fisiopatologia , Humanos , Lamotrigina , Imageamento por Ressonância Magnética , Masculino , Periodicidade , Triazinas/uso terapêuticoRESUMO
Nontraumatic subarachnoid hemorrhage is a relatively rare disease, typically secondary to a ruptured aneurysm. We report the case of a 23-year-old patient who developed a subarachnoid hemorrhage caused by extensive cerebral venous thrombosis due to a factor V Leiden mutation. Cerebral venous thrombosis is an uncommon etiology of subarachnoid hemorrhage. This raises diagnostic difficulties and a therapeutic dilemma regarding the use of anticoagulants.
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Hemorragia Subaracnóidea/etiologia , Trombose Venosa/genética , Anticoagulantes/uso terapêutico , Fator V/genética , Humanos , Trombose do Seio Lateral/diagnóstico , Angiografia por Ressonância Magnética , Masculino , Mutação Puntual , Hemorragia Subaracnóidea/diagnóstico , Hemorragia Subaracnóidea/tratamento farmacológico , Seio Sagital Superior/patologia , Tomografia Computadorizada por Raios X , Trombose Venosa/complicações , Adulto JovemRESUMO
INTRODUCTION: Laughter-induced syncope or gelastic syncope is a rare and unrecognized phenomenon. We report an additional case. CASE REPORT: We report a 65-year-old man with no personal past medical history, particularly diabetes or heart disease, was admitted to investigate recent four episodes of loss of consciousness exclusively induced by laugh. The first episode had occurred 8 months earlier after reading a funny story. There were no other symptoms and physical examination, particularly neurological and cardiac was normal. All paraclinical investigations were also unremarkable: laboratory tests (glucose, thyroid function test and blood cobalamin level), cardiac and neurological investigations (electrocardiographic monitoring, echocardiography, electroencephalography and brain MRI). Treatment with propanolol prevented subsequent attacks. CONCLUSION: Sustained laugh is accompanied by repetitive bursts of forced expiration, equivalent to short repetition of Valsalva maneuvers. Laughter-induced syncope is thought to be a subtype of the vagal mediated syncopal attacks. Differential diagnosis should rule out especially gelastic atonic seizures and cataplexy. Propanolol is an effective therapy to prevent recurrence.
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Epilepsias Parciais/complicações , Síncope/etiologia , Idoso , Epilepsias Parciais/diagnóstico , Epilepsias Parciais/tratamento farmacológico , Humanos , Riso/fisiologia , Masculino , Propranolol/uso terapêutico , Recidiva , Síncope/diagnóstico , Síncope/prevenção & controleAssuntos
Benserazida/efeitos adversos , Ginecomastia/induzido quimicamente , Hiperprolactinemia/induzido quimicamente , Idoso , Antiparkinsonianos/efeitos adversos , Antiparkinsonianos/uso terapêutico , Benserazida/uso terapêutico , Ginecomastia/complicações , Ginecomastia/diagnóstico , Humanos , Hiperprolactinemia/complicações , Hiperprolactinemia/diagnóstico , Masculino , Doença de Parkinson/tratamento farmacológicoRESUMO
Diabetic patients during hyperglycaemic crises may present a rare syndrome characterised by a typical triad: unilateral involuntary movements (hemichoreahemiballism), radiological contralateral striatal abnormality, and rapid resolution of symptoms after glycae - mic correction. This study reports a series of patients showing less usual aspects and also discusses the pathophysiology of this clinical-radiological syndrome. We included in this study four patients presenting choreic or ballic involuntary movements and in whom aetiological assessment revealed frank non-ketotic hyperglycaemia, without other abnormalities that could explain the movement disorder. All the patients underwent CT or MR brain imaging. The typical triad was present in only one case. Less classical aspects were more frequently found: movement disorders revealed diabetes in two patients and one patient had generalised chorea and strictly normal neuroimaging. Correction of blood glucose was not sufficient to improve symptoms in two cases. In one, abnormal movements persisted despite treatment with tetrabenazine. The clinical, radiological and outcome spectrum of the syndrome of chorea-ballismus induced by non-ketotic hyperglycaemia is heterogeneous and not restricted to a typical triad.
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Glicemia/metabolismo , Encefalopatias/patologia , Coreia/diagnóstico , Diabetes Mellitus/patologia , Hiperglicemia/sangue , Neostriado/patologia , Idoso , Encefalopatias/sangue , Coreia/sangue , Coreia/etiologia , Coreia/patologia , Complicações do Diabetes/sangue , Complicações do Diabetes/patologia , Diabetes Mellitus/sangue , Feminino , Lateralidade Funcional , Humanos , Hiperglicemia/patologia , Cetose/sangue , Cetose/patologia , Masculino , Pessoa de Meia-IdadeRESUMO
We retrospectively evaluated 105 patients at the Mayo Clinic between 1970 and 2006 with native valve endocarditis who underwent acute valve surgery. The objective was to determine if outcomes differed based on whether they had received an antibiotic regimen recommended for native valve endocarditis or one for prosthetic valve endocarditis. Fifty-two patients had streptococcal and 53 had staphylococcal infections. Patients with each type of infection were divided into two groups: the first received postoperative monotherapy (with a beta-lactam or vancomycin), and the second received combination therapy (with an aminoglycoside for streptococcal infection, and gentamicin and/or rifampin for staphylococcal infection). The duration and types of antibiotics given pre- and postoperatively, valve cultures results, antibiotic-related adverse events, relapses, and mortality rates within 6 months of surgery were analyzed. Cure rates were similar regardless of the regimen administered. With the small number of patients in each group, a multicenter study with a larger cohort of patients is needed to better define optimal postoperative treatment regimens in this population.
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Antibacterianos/uso terapêutico , Endocardite Bacteriana/tratamento farmacológico , Doenças das Valvas Cardíacas/tratamento farmacológico , Adulto , Idoso , Aminoglicosídeos/uso terapêutico , Quimioterapia Combinada , Endocardite Bacteriana/microbiologia , Endocardite Bacteriana/cirurgia , Feminino , Doenças das Valvas Cardíacas/microbiologia , Doenças das Valvas Cardíacas/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Rifampina/uso terapêutico , Infecções Estafilocócicas/tratamento farmacológico , Infecções Estafilocócicas/cirurgia , Infecções Estreptocócicas/tratamento farmacológico , Infecções Estreptocócicas/cirurgia , Resultado do Tratamento , Vancomicina/uso terapêutico , beta-Lactamas/uso terapêuticoRESUMO
INTRODUCTION: Painful legs and moving toes (PLMT) is a rare syndrome characterized by spontaneous neuropathic pain in the lower limbs associated with peculiar involuntary movements of the toes. It has been associated with a variety of peripheral and central nervous system diseases. Pathophysiology is unclear and treatment approaches remain largely empirical. CLINICAL CASE: We report a case of a 42-year-old women with typical presentation of PLMT syndrome, associated with lumbar (L5) disc prolapse. Oxcarbazepine gave a partial improvement. CONCLUSION: Clinical presentations and etiological aspects of the PLMT syndrome are described and pathophysiological mechanisms and therapeutic possibilities discussed.
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Perna (Membro)/patologia , Transtornos dos Movimentos/patologia , Dor/etiologia , Radiculopatia/patologia , Dedos do Pé/patologia , Adulto , Analgésicos/uso terapêutico , Discinesias/etiologia , Discinesias/terapia , Feminino , Humanos , Atividade Motora , Radiculopatia/tratamento farmacológico , Radiculopatia/terapia , DescansoRESUMO
INTRODUCTION: Combined medullar sclerosis, together with peripheral sensory neuropathies, is the most common neurological manifestation observed in cobalamin deficiency. Biermer's disease is the predominant cause. Other clinical and etiological aspects are nevertheless frequent, although underestimated. METHODS: This retrospective study included patients with neurological symptoms and cobalamin (B12 vitamin) deficiency confirmed by laboratory tests collected over a period of 11 years. RESULTS: Twenty-seven cases were analyzed. Mean age was 47 years and there were 11 women and 16 men. Distribution of the neurological syndromes was: combined medullar sclerosis in 18 patients (67%), sensory neuropathies in 30% of cases and sensory-motor neuropathies in 15%. One patient had fronto-subcortical dementia with good improvement after vitamin replacement. In addition, autonomic dysfunction was noted in six patients (orthostatic symptomatic hypotension and/or urinary dysfunction and/or erectile failure). Dysautonomia revealed cobalamin deficiency in three patients with a good and fast response to the cobalamin therapy in all cases. Biermer's disease was diagnosed in 17 patients (63%) and a likely syndrome of nondissociation of cobalamin in two patients. One patient had Crohn's disease and no etiology was found in seven patients. In five patients (19%), nitrous oxide undoubtedly induced decompensation of latent cobalamin deficiency; four after a general anesthesia and one by chronic professional exposure. Outcome was very good in 46% of patients after vitamin replacement, particularly if treatment was started rapidly. DISCUSSION: The findings in this series highlight the frequency of autonomic dysfunction sometimes revealing cobalamin deficiency with a fast and good response to vitamin replacement and the frequency of neurological disorders following decompensation triggered by general anesthesia using nitrous oxide in patients with latent cobalamin deficiency.
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Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/patologia , Deficiência de Vitamina B 12/patologia , Adolescente , Adulto , Idoso , Anestesia Geral/efeitos adversos , Doenças do Sistema Nervoso Autônomo/etiologia , Feminino , Humanos , Masculino , Bulbo/patologia , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/tratamento farmacológico , Estudos Retrospectivos , Esclerose/patologia , Transtornos de Sensação/tratamento farmacológico , Transtornos de Sensação/etiologia , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/tratamento farmacológico , Vitaminas/uso terapêutico , Adulto JovemRESUMO
INTRODUCTION: Mitochondrial encephalomyopathy lactic acidosis and stoke-like episodes (MELAS) is a rare neurodegenerative disease caused by mutations of mitochondrial DNA. CASE REPORT: We report the case of a 12-year-old child with MELAS syndrome who presented with recurrent migraine-like headache and sudden blindness suggesting stroke-like episodes. Furthermore, he developed progressive muscular impairment with bilateral hearing loss. Serum lactate and pyruvate levels were elevated and the muscle biopsy showed an aspect of red-ragged fibers with Gomori trichrome. Brain imaging showed calcifications of basal ganglia on the CT scan and a parieto-occipital high signal on diffusion-weighted MRI. A genetic analysis was not performed but the presence of hearing loss in the patient's mother was suggestive of maternal transmission. Stroke-like episodes in the form of migraine-like headache and blindness were the patient's major complaint and did not improve despite analgesic drugs. After oral administration of l-arginine at the dose of 0.4mg/kg per day, stroke-like symptoms totally and rapidly disappeared. DISCUSSION: The efficiency of l-arginine in stroke-like episodes was initially reported then confirmed in a controlled study. The pathophysiology of stoke-like episodes and the mechanisms underlying the action of l-arginine are discussed.
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Arginina/uso terapêutico , Síndrome MELAS/tratamento farmacológico , Biópsia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Calcinose/patologia , Criança , Progressão da Doença , Humanos , Lactatos/sangue , Síndrome MELAS/sangue , Síndrome MELAS/patologia , Síndrome MELAS/fisiopatologia , Masculino , Músculo Esquelético/patologia , Piruvatos/sangue , Tomografia Computadorizada por Raios XRESUMO
Apathy is defined as reduced goal-directed behavior due to lack of motivation. Traumatic brain injury is a frequent cause. Drugs activating the dopaminergic system provide variable benefit. A 30-year-old patient was the victim of a severe head injury with frontal bruise at the age of 15. At the request of his family, he consulted for a 7-year history that included a lack of initiative and the inability to generate behavior spontaneously, contrasting with the ability to execute behaviors on command. He also presented indifference, major emotional disruption without sadness, pessimism, and other depressive signs. The examination found a severe apathetic syndrome confirmed by specific scales with a mild impairment of executive functions and without depressive syndrome. Encephalic MRI showed atrophy of the whole prefrontal cerebral cortex. The patient was treated with bromocriptine, which he did not tolerate, then with Selegiline at 15 mg per day, which dramatically improved his symptoms. Apathy occurs frequently after traumatic brain injury, in 23-71% of patients according to the authors. The pathophysiology of apathy has been described in anatomical terms as related to disruption of frontal-subcortical pathways. The biochemical hypothesis postulates a disruption in dopaminergic activity. The use of dopaminergic agents usually improves cases similar to our patient. Apathy is frequent following head injury, warranting a search for systematic causes. Since it increases dopaminergic activity, Selegiline is well worth trying in these patients.
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Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/psicologia , Transtornos Mentais/tratamento farmacológico , Transtornos Mentais/etiologia , Inibidores da Monoaminoxidase/uso terapêutico , Selegilina/uso terapêutico , Adolescente , Adulto , Comportamento , Bromocriptina/efeitos adversos , Bromocriptina/uso terapêutico , Traumatismos Craniocerebrais/patologia , Agonistas de Dopamina/efeitos adversos , Agonistas de Dopamina/uso terapêutico , Emoções/fisiologia , Escala de Coma de Glasgow , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtornos Mentais/psicologia , Motivação , Córtex Pré-Frontal/diagnóstico por imagem , RadiografiaRESUMO
Sjögren-Larsson syndrome is a very rare inherited neurocutaneous disorder caused by a deficiency of microsomal enzyme fatty aldehyde dehydrogenase (FALDH). The authors report a case of typical Sjögren-Larsson syndrome in a 7-year-old Moroccan child who presented with classical symptoms (congenital ichthyosis, mental retardation, and spastic paraparesis) and epilepsy. The genetic study revealed a new mutation in the FALDH gene mapped to chromosome 17, consisting in a G109A substitution in exon 2.
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Aldeído Oxirredutases/genética , Mutação , Criança , Feminino , Humanos , Marrocos , LinhagemRESUMO
INTRODUCTION: Crow-Fukase or Polyneuropathy, Organomegaly, Endocrinopathy, M-protein, and Skin changes syndrome (POEMS) is a rare multisystemic affection with incompletely elucidated etiopathogenesis. CASE REPORT: We report a case of POEMS syndrome in a 48-year-old adult revealed four months before admission by areflexic flask tetraparesis prevalent on the lower limbs in connection with demyelinating and axonal CIDP "like" sensoriomotor neuropathy of the four limbs electroneuromyographically. The patient presented elevated protein level in the CSF with monoclonal standard IgG gammapathy associated with a narrow band lambda, suggesting POEMS syndrome. Further explorations revealed skin lesions with glomeruloid angiomas, edematous vasomotor disorders as well as erythrocyanose, hypogonadism, papillar edema and a lytic bone lesion of the left scapula. Radiotherapy was associated with corticosteroids and plasma exchanges. Outcome was good with resolution of the symptoms and stabilization of the neuropathy. DISCUSSION: POEMS syndrome is rare; the diagnosis is based on necessary criteria, the presence of a demyelinating and axonal polyneuropathy associated with an IgA or IgG monoclonal gammapathy, the light chain being almost entirely lambda, associated to other characteristic elements, in particular glomeruloid angiomas, endocrinopathy, sclerosing plasmocytoma which must be carefully required. Treatment is based on surgical cure or radiotherapy for bone lesion and non specific treatments such as corticosteroid therapy, plasma exchanges and IVIG.
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Neoplasias Ósseas/complicações , Neoplasias Ósseas/patologia , Síndrome POEMS/complicações , Síndrome POEMS/patologia , Plasmocitoma/complicações , Plasmocitoma/patologia , Anti-Inflamatórios/uso terapêutico , Neoplasias Ósseas/terapia , Eletrodiagnóstico , Humanos , Imunoglobulina G/imunologia , Masculino , Pessoa de Meia-Idade , Neurônios Motores/fisiologia , Condução Nervosa , Síndrome POEMS/terapia , Plasmocitoma/terapia , Radioterapia , Esteroides/uso terapêutico , Tomografia Computadorizada por Raios XRESUMO
Trigeminal neuralgia in its classic form is usually an isolated disease that occurs in sporadic fashion, but familial cases have been described. We report the case of a 45-year-old man who presented with left V2 trigeminal neuralgia. The neurological examination was normal and imaging and laboratory investigations were non-contributive to the etiological work-up. Carbamazepine gave excellent symptomatic relief. During patient evaluation, we became aware of a clustering of trigeminal neuralgia in four other family members over three generations. Familial trigeminal neuralgia has been expounded on in fewer than 30 reports in the literature. Our cases and the literature review suggest an autosomal dominant transmission. The clinical features of familial trigeminal neuralgia are described and pathophysiological implications of this genetic clustering discussed.