RESUMO
Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing loss with presumptive autosomal recessive (n = 50) or autosomal dominant (n = 50) patterns of inheritance. Rare copy number variants (CNVs) were detected in 12 probands; four of the detected CNVs comprised genes previously associated with hearing loss (POU4F3, EYA4, USH2A, and BCAP31) and were considered causative, stressing the contribution of genomic imbalance to non-syndromic deafness. In six cases, segregation of the CNVs in pedigrees excluded them as causative. In one case, segregation could not be investigated, while in another case, a point mutation likely explains the phenotype. These findings show that the presumptive patterns of inheritance were incorrect in at least two cases, thereby impacting genetic counselling. In addition, we report the first duplication reciprocal to the rare ABCD1, BCAP31, and SLC6A8 contiguous deletion syndrome; as with most microduplication syndromes, the associated phenotype is much milder than the respective microdeletion and, in this case, was restricted to hearing impairment.
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Background and study aims: The long-term comprehensive prognosis of chronic hepatitis C after direct-acting antiviral (DAA) therapy is unclear. This study aimed to investigate the prognosis and incidence of immunological and oncological complications after DAA therapy. Patients and methods: The study included a total of 1461 patients who received DAA therapy in our university hospital and affiliated hospitals between September 3, 2014 and September 30, 2018. Results: The incidence rates of total malignancies in overall or female patients after DAA therapy were significantly greater than expected in the corresponding general population. The same was true for lung malignancies. Predictive risk factors associated with the occurrence and recurrence of hepatic malignancies after DAA therapy in patients with sustained virological response were cirrhosis and insulin use, protein induced by vitamin K absence or antagonist-II level, and albumin-bilirubin score, respectively. Eight (0.5%) patients were diagnosed with autoimmune diseases after starting DAA therapy. Importantly, the attending physician considered a possible causal relationship between DAA therapy and these autoimmune diseases in five cases (four rheumatoid arthritis and one membranoproliferative glomerulonephritis). The 5-year overall survival rate was 91.6%. The most frequent primary cause of death was malignancy in 41 (60.2%) patients, including 25 with hepatic malignancies. Lung and colorectal cancers were the next most common. Conclusions: Given that the incidence of total and lung cancers might increase and DAA-related autoimmune diseases might emerge after DAA therapy, we should be alert for the development of these diseases as well as hepatic malignancies.
Assuntos
Carcinoma Hepatocelular , Hepatite C Crônica , Hepatite C , Neoplasias Hepáticas , Humanos , Feminino , Hepatite C Crônica/tratamento farmacológico , Hepatite C Crônica/epidemiologia , Hepatite C Crônica/complicações , Antivirais/efeitos adversos , Carcinoma Hepatocelular/tratamento farmacológico , Incidência , Neoplasias Hepáticas/tratamento farmacológico , Prognóstico , Hepatite C/tratamento farmacológicoRESUMO
The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were detected in eight patients, four de novo imbalances and four inherited from a normal parent. The de novo alterations define candidate chromosome segments likely to harbor dosage-sensitive genes related to hearing impairment, namely 1q23.3-q25.2, 2q22q23, 6p25.3 and 11q13.2-q13.4. The rare imbalances also present in normal parents might be casually associated with hearing impairment, but its role as a predisposition gene remains a possibility. Our results show that syndromic deafness is frequently associated with chromosome microimbalances (14-27%), and the use of aCGH for defining disease etiology is recommended.
Assuntos
Instabilidade Cromossômica/genética , Perda Auditiva/genética , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Feminino , Dosagem de Genes , Humanos , Masculino , SíndromeRESUMO
Hand disorders are common emergency department problems. They may be associated with long-term disability and significant financial impact for the patient and society. In many areas of clinical medicine, highly technical diagnostic and therapeutic modalities have taken center stage. In contrast, an accurate history and carefully performed physical examination of the hand retains a central and pivotal role in hand evaluation and treatment.
Assuntos
Traumatismos da Mão/diagnóstico , Emergências , Feminino , Mãos/anatomia & histologia , Mãos/inervação , Traumatismos da Mão/fisiopatologia , Humanos , Masculino , Exame Físico/métodos , Traumatismos dos Tendões/diagnósticoRESUMO
The joints of the hand are stabilized by articular contours, tough ligamentous structures, and dynamically by a system of flexor and extensor tendons. Disruption of a joint seriously reduces the ability of the hand to function properly. The history and especially a detailed description of the mechanism of injury is invaluable information for the diagnosis and for the ability to anticipate complications. Radiographic evaluation is required for virtually all potential injuries. Multiple views and especially a true lateral view of the digit, when appropriate, are usually sufficient. The clinical examination includes the evaluation of (1) deformity, (2) swelling, (3) tendon and neurovascular status, (4) tests for stability, and (5) active and gentle passive range of motion. The most important aspect of treatment is the ability to distinguish between injuries that require surgery and those that can be splinted and referred for follow-up. In general a near full range of active motion indicates joint congruity, and the injury can be treated by splinting and referral to a hand surgeon.
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Traumatismos dos Dedos , Luxações Articulares , Doença Aguda , Emergências , Traumatismos dos Dedos/diagnóstico por imagem , Traumatismos dos Dedos/terapia , Articulações dos Dedos , Humanos , Luxações Articulares/diagnóstico por imagem , Luxações Articulares/terapia , Radiografia , Polegar/lesõesRESUMO
Extensor tendon injuries are often initially evaluated and diagnosed in the Emergency Department. These injuries may be painfully obvious or frightfully subtle, but if the emergency physician has a firm understanding of the anatomy involved and he or she embarks on a careful and complete history and physical examination, the diagnosis should be made. There are various considerations in the ultimate treatment and outcome for the patient, and the patient's best interests are served when the emergency physician provides the initial appropriate treatment and proper disposition.
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Traumatismos da Mão/terapia , Traumatismos dos Tendões/terapia , Emergências , Mãos/anatomia & histologia , Traumatismos da Mão/classificação , Traumatismos da Mão/diagnóstico , Humanos , Traumatismos dos Tendões/classificação , Traumatismos dos Tendões/diagnóstico , Tendões/anatomia & histologiaRESUMO
OBJECTIVE: To evaluated the effect of short-term oral supplementation in the nutritional status of 14 patients with cystic fibrosis in 19 hospital admissions. METHODS: All patients received standard pulmonary therapy, and to 13 patients (Group I = GI) a high-fat oral supplement was offered besides the standard diet. The control group (GII) received the same diet except for the supplement. Anthropometric measurements, quantitative assessment of energy intake and serum biochemical parameters were determined on admission and prior to discharge from hospital. RESULTS: There was no difference in the weight gain between groups (median: GI=+1000 g; GII=+550 g), nor in the variations of height, skinfolds and body fat. Z scores were calculated (mean-/+SD: weight/age, GI=-2.19-/+1.0, GII=-2.57-/+1.1; height/age, GI=-1.73-/+1.4, GII=-2.06-/+1.4 ), showing that those patients had chronic severe malnutrition, with no changes in Z Score in this period. The diet offered to the patients provided the RDA for calories only in the supplemented group, and this value was significantly higher compared to the non-supplemented group (mean -/+ SD : GI= 146-/+20% RDA; GII=105-/+13%RDA). The energy intake was significantly higher in group I (mean-/+SD: GI=126-/+22%RDA; GII= 81-/+27%RDA), and it increased significantly by the end of admission in this group. The biochemical assessment revealed low levels of prealbumin in both groups on admission (mean-/+SD: GI=11-/+10mg/dl; GII=8-/+8 mg/dl), with significant increase only in group I (mean-/+SD: GI=23-/+15 mg/dl; GII=8-/+11 mg/dl). No variations in the levels of triglycerides were observed, but the cholesterol levels increased significantly in both groups. CONCLUSIONS: Although the weight gain was similar in both groups, prealbumin increased only in the supplemented group. This group had a higher energy intake than the non-supplemented one, and it reached the RDA for calories.
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The cornerstone for radiographic evaluation of genitourinary trauma is intravenous pyelography (IVP). Despite its widespread use, however, the indications for emergency IVP in trauma remain controversial. Some authors recommend the use of an IVP for all patients with hematuria, while others are selective, basing their decision on the degree of hematuria or such other factors as the mechanism of injury, physical examination, or the presence of associated injuries. Based on the data reviewed for blunt and penetrating trauma, we recommend that an IVP be performed in: all patients with gross hematuria; all patients who present with pain or tenderness that could be referrable to the genitourinary tract, even in the absence of hematuria; all patients with flank hematoma or ecchymosis; and all patients with penetrating trauma that could reasonably be expected to injure the genitourinary tract. Recently computed tomography (CT) has been proposed for the evaluation of renal trauma. The CT proponents cite superior definition of the extent of renal injury and superior detection of injuries not clinically suspected. Some have proposed the following algorithm, incorporating computed tomography. If an isolated renal injury is suspected clinically, an emergency IVP is performed. If the IVP is normal, expectant conservative treatment follows. If the IVP is abnormal or if the patient has persistent symptoms, an emergency CT scan is performed. Furthermore computed tomography is performed initially in the stable patient with multiple trauma and in the patient with suspected severe renal injury. While this algorithm has not been universally accepted, future studies confirming the theoretical advantages of this approach are anticipated.
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Emergências , Hematúria/diagnóstico por imagem , Rim/lesões , Urografia , Ferimentos não Penetrantes/diagnóstico por imagem , Ferimentos Penetrantes/diagnóstico por imagem , Criança , Pré-Escolar , Equimose/diagnóstico por imagem , Humanos , Tomografia Computadorizada por Raios XRESUMO
Injuries to the lower genitourinary tract may occur with penetrating or severe blunt lower abdominal trauma. Commonly associated findings are pelvic fractures and gross hematuria or a bloody urethral discharge. Retrograde cystourethrography should be performed in all cases of penetrating trauma when lower genitourinary tract injury is suspected. We recommend retrograde urethrography in male patients with a pelvic fracture or significant lower abdominal or perineal trauma without a fracture when associated with gross hematuria, a bloody urethral discharge, inability to void, swelling, ecchymosis or hematoma of the perineum or penis, or a "high-riding" or boggy prostate. Cystography should follow urethrography after a urethral injury has been excluded.
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Emergências , Ossos Pélvicos/lesões , Bexiga Urinária/diagnóstico por imagem , Feminino , Hematúria/diagnóstico por imagem , Hematúria/etiologia , Humanos , Masculino , Ruptura , Uretra/diagnóstico por imagem , Uretra/lesões , Bexiga Urinária/lesões , Urografia/economia , Doenças Urológicas/diagnósticoRESUMO
Readily available household products represent a source of potential toxicity when ingested accidentally by children. Despite the large number of patients seen by physicians and a familiarity with many of these substances, patient management often remains a difficult problem. The current literature is reviewed with respect to appropriate management of ingestions of household cleaners, caustics, hydrocarbons, insecticides, rodenticides, plants, and other products often taken by children.
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Produtos Domésticos/intoxicação , Criança , Detergentes/intoxicação , Humanos , Hidrocarbonetos/intoxicação , Inseticidas/intoxicação , Petróleo/intoxicação , Intoxicação por Plantas/diagnóstico , Rodenticidas/intoxicaçãoRESUMO
It is apparent from this discussion that it may be exceedingly difficult to make the diagnosis of Boerhaave's syndrome. The failure to correctly diagnose this patient was due, in part, to the absence of vomiting in the history. Nevertheless, the presence of pneumomediastinum on the initial chest roentgenogram was a significant finding that was missed and would have suggested this diagnosis. This patient is an example of an "atypical" presentation and demonstrates that vomiting need not be a part of the presentation. Because esophageal rupture is a rare clinical entity, a high index of suspicion and careful examination of the chest roentgenogram are mandatory to establish the correct diagnosis.
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Dor no Peito/complicações , Esôfago/lesões , Enfisema Mediastínico/complicações , Choque/complicações , Diagnóstico Diferencial , Eletrocardiografia , Esôfago/cirurgia , Humanos , Masculino , Enfisema Mediastínico/diagnóstico por imagem , Enfisema Mediastínico/fisiopatologia , Pessoa de Meia-Idade , Radiografia , RupturaRESUMO
Boerhaave's syndrome represents a diagnostic dilemma for the emergency physician. The prognosis of this truly life-threatening emergency is darkened by any significant diagnostic delay. Unfortunately, classic or expected symptoms and signs are frequently absent at presentation, a circumstance that leads to frequent misdiagnosis. Two cases of Boerhaave's syndrome with "atypical" clinical presentations are reviewed and discussed. It is clear that Boerhaave's syndrome should always be suspected in the evaluation of any sudden chest, abdominal, or back pain associated with emesis. However, emphasis should be placed on the fact that this entity may occur without emesis. The chest radiograph is the most helpful diagnostic aid. Undoubtedly, maintenance of a high degree of suspicion by the emergency physician for Boerhaave's syndrome will lead consistently to earlier diagnosis, and subsequent aggressive intervention should result in considerable reduction in rates of both morbidity and mortality.
Assuntos
Doenças do Esôfago/diagnóstico , Consumo de Bebidas Alcoólicas , Emergências , Doenças do Esôfago/complicações , Doenças do Esôfago/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Ruptura Espontânea , Síndrome , Vômito/etiologiaRESUMO
Few studies have tried to characterize the efficacy of parenteral support of critically ill infants during short period of intensive care. We studied seventeen infants during five days of total parenteral hyperalimentation. Subsequently, according to the clinical conditions, the patients received nutritional support by parenteral, enteral route or both up to the 10th day. Evaluations were performed on the 1st, 5th, and 10th days. These included: clinical data (food intake and anthropometric measurements), haematological data (lymphocyte count), biochemical tests (albumin, transferrin, fibronectin, prealbumin, retinol-binding protein) and hormone assays (cortisol, insulin, glucagon). Anthropometric measurements revealed no significant difference between the first and second evaluations. Serum albumin and transferrin did not change significantly, but mean values of fibronectin (8.9 to 16 mg/dL), prealbumin (7.7 to 18 mg/dL), and retinol-binding protein (2.4 to 3. 7 mg/dL) increased significantly (p < 0.05) from the 1st to the 10th day. The hormonal study showed no difference for insulin, glucagon, and cortisol when the three evaluations were compared. The mean value of the glucose/insulin ratio was of 25.7 in the 1st day and 15. 5 in the 5th day, revealing a transitory supression of this hormone. Cortisol showed values above normal in the beginning of the study. We conclude that the anthropometric parameters were not useful due to the short time of the study; serum proteins, fibronectin, prealbumin, and retinol-binding protein were very sensitive indicators of nutritional status, and an elevated glucose/insulin ratio, associated with a slight tendency for increased cortisol levels suggest hypercatabolic state. The critically ill patient can benefit from an early metabolic support.