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2.
Genet Couns ; 27(3): 399-403, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-30204970

RESUMO

Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life with hypotonia, lethargy, seizures, microcephaly, hydrocephalus, developmental delay and other multisystem involvement including hematologic, ocular, renal, hepatic and cardiac symptoms. We report a case of a female infant with cblC deficiency who presented with seizures, developmental delay and hypopigmented cutaneous lesions. To our knowledge, the patient is the first diagnosed with cblC deficiency who had skin hypopigmentation.


Assuntos
Homocistinúria/genética , Hipopigmentação/genética , Espasmos Infantis/genética , Deficiência de Vitamina B 12/congênito , Atrofia , Betaína/uso terapêutico , Encéfalo/patologia , Carnitina/uso terapêutico , Proteínas de Transporte/genética , Análise Mutacional de DNA , Feminino , Ácido Fólico/uso terapêutico , Homocistinúria/diagnóstico , Homocistinúria/tratamento farmacológico , Humanos , Hidroxocobalamina/uso terapêutico , Hipopigmentação/diagnóstico , Hipopigmentação/tratamento farmacológico , Lactente , Injeções Intramusculares , Imageamento por Ressonância Magnética , Metionina/uso terapêutico , Oxirredutases , Espasmos Infantis/diagnóstico , Espasmos Infantis/tratamento farmacológico , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/tratamento farmacológico , Deficiência de Vitamina B 12/genética
3.
B-ENT ; 8(2): 123-6, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22896931

RESUMO

OBJECTIVES: Success rates for revision dacryocystorhinostomy (DCR) are lower than primary DCR. Scarring of the sac may limit the surgeon's ability to achieve good nasal and lacrimal mucosa apposition. The aims of this study were to assess the long term safety and efficacy of intra-operative use of adjunctive mitomycin C (MMC) treatment in endoscopic revision DCR surgery over 12-24 (mean 17) months. METHODOLOGY: This was a prospective, nonrandomized consecutive case series that included 20 adult patients (20 eyes) with failed primary external DCR who underwent revision surgery under assisted local anaesthesia. During revision endoscopic DCR, intra-operative adjunctive MMC (0.2 mg/mL) was applied to the osteotomy site of the lacrimal sac and scar tissue surrounding the surgical osteum for 5 minutes. RESULTS: The surgical success rate was determined based on the patency of the nasolacrimal system by irrigation and resolution of patient symptoms. Endoscopic revision DCR surgery with MMC was successful in 90% of cases (18 of 20 cases). No adverse effects (eg, abnormal nasal bleeding, mucosal necrosis, infection) or any other surgical adverse events were observed. CONCLUSIONS: Adjunctive intra-operative MMC application with endoscopic DCR surgery had a good success rate in patients with nasolacrimal duct obstruction that required revision surgery. Further large, double blind, placebo controlled, randomized studies are needed to confirm these findings.


Assuntos
Alquilantes/administração & dosagem , Dacriocistorinostomia , Endoscopia , Mitomicina/administração & dosagem , Ducto Nasolacrimal , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Cuidados Intraoperatórios , Obstrução dos Ductos Lacrimais/patologia , Masculino , Estudos Prospectivos , Reoperação , Resultado do Tratamento , Adulto Jovem
4.
J Laryngol Otol ; 125(10): 1087-90, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21729452

RESUMO

OBJECTIVE: We report an extremely rare case of giant fibrovascular polyp of the hypopharynx. METHOD: We present a 49-year-old man who had increasing difficulty swallowing, advanced respiratory distress and weight loss, as well as a hypopharyngeal mass protruding from his mouth. RESULTS: Diagnosis was confirmed by endoscopic examination and computed tomography. A tracheostomy was required due to laryngeal obstruction by the regurgitated mass. The giant polyp was removed via per-oral endoscopic excision under general anaesthesia. CONCLUSION: Fibrovascular polyps occur most commonly in the cervical oesophagus, and are extremely rare in the hypopharynx. They can grow to a very large size over several years. We discuss the symptoms, diagnosis and surgical treatment techniques for upper aerodigestive tract fibrovascular polyps, in the light of the literature.


Assuntos
Neoplasias Hipofaríngeas/diagnóstico , Pólipos/diagnóstico , Doenças Raras/diagnóstico , Manuseio das Vias Aéreas/métodos , Obstrução das Vias Respiratórias/diagnóstico , Obstrução das Vias Respiratórias/etiologia , Obstrução das Vias Respiratórias/cirurgia , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/cirurgia , Diagnóstico Diferencial , Endoscopia , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patologia , Neoplasias Esofágicas/cirurgia , Humanos , Neoplasias Hipofaríngeas/diagnóstico por imagem , Neoplasias Hipofaríngeas/cirurgia , Masculino , Pessoa de Meia-Idade , Pólipos/diagnóstico por imagem , Pólipos/cirurgia , Radiografia , Doenças Raras/diagnóstico por imagem , Doenças Raras/cirurgia , Traqueostomia , Redução de Peso
5.
J Int Med Res ; 38(6): 2047-52, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21227009

RESUMO

Metabolic changes in head and neck carcinogenesis are often non-specifically correlated with carcinomas. The study of metabolic disorders can improve the understanding of tumourigenesis at the cellular level. This study was designed to evaluate the role of serum homocysteine, folate, and vitamin B(12) levels in the pathogenesis of laryngeal squamous cell cancer (LSCC) by measuring serum levels in 60 consecutive untreated patients with LSCC and 60 controls (30 smokers and 30 non-smokers). Compared with smoker and non-smoker control groups, significantly lower levels of vitamin B(12) were found in patients with LSCC. Folate levels in patients with LSCC were also significantly lower than in the smoker and non-smoker control groups. There were no significant differences in the homocysteine levels between these three groups. Metabolic alterations in vitamin B(12) and folate levels, particularly hypofolataemia, could be associated with the development of LSCC, although further research is required to confirm their roles definitively.


Assuntos
Carcinoma de Células Escamosas/sangue , Ácido Fólico/sangue , Homocisteína/sangue , Neoplasias Laríngeas/sangue , Vitamina B 12/sangue , Estudos de Casos e Controles , Demografia , Humanos , Pessoa de Meia-Idade
6.
Br Poult Sci ; 44(1): 88-95, 2003 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-12737230

RESUMO

1. The present study was conducted to determine if detrimental effects of high temperature on broiler performance could be overcome by short-term fasting and to examine the effect of food withdrawal on the responses of two commercial strains (S1 and S2). 2. An experimental design was used with three feeding groups and two strains. Birds in the control (C) group were fed ad libitum during the experimental period (0 to 6 weeks), while feed was withdrawn in the other groups between 10:00 and 16:00 h during weeks 5 and 6 (F1) or week 6 (F2), respectively. After standard brooding for the first 3 weeks temperature and humidity varied according to outside climate between 4 and 6 weeks of age. 3. Feeding strategy significantly affected body weight at week 6 (BW6) and daily weight gain during week 6 (DWG5-6). F2 gave the best results in BW6 and DWG5-6. Strain effect was significant on DWG4-5 and DWG5-6; S1 had higher DWG4-5 and S2 gained more at the last stage. S1C broilers had greater BW6 than S2C but the S2 strain gave a better response to short-term fasting compared with S1 and this resulted in significant strain by feeding interaction effect on BW6 and DWG5-6. 4. It was shown that short-term fasting was an effective method for controlling rectal temperature (RT) of broilers at 5 and 6 weeks of age. 5. Total food consumption (FCO-6), food conversion ratio (FCRO-6), mortality, and carcase characteristics were not affected by short-term fasting in the experimental conditions. 6. In conclusion, it can be recommended that broiler producers may practise 6 h of fasting during the hot period of the day without any adverse effect on slaughter weight and FCR when the birds are close to the average slaughter weight and a heat wave is expected. Strain differences in RT measurements also indicate the importance of choosing strains to be used in hot and warm climate conditions with attention to the thermoregulation ability of broilers.


Assuntos
Temperatura Corporal/fisiologia , Galinhas/fisiologia , Jejum/fisiologia , Ração Animal , Animais , Dieta , Temperatura Alta , Abrigo para Animais , Reto , Estações do Ano , Fatores de Tempo
7.
J Dairy Sci ; 85(7): 1670-6, 2002 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12201516

RESUMO

Nine organic acids (formic, pyruvic, lactic, acetic, orotic, citric, uric, propionic, and butyric) were analyzed during ripening of pickled White cheese for 12 mo by high-performance liquid chromatography with a reverse phase C18 (120x 5-mm) column and UV detector. The level oftotal organic acids showed an increase along the ripening period, but its composition varied during the process. Initially, lactic acid accounted for 95% of the total, after 9 and 12 mo of ripening, butyric acid constituted 20 and 27% of the total, respectively. Each organic acid presented a characteristic pattern of change during ripening. Discriminant analysis classified cheeses according to their age. Stepwise regression analysis allowed estimation of the ripening time of samples according to their organic acid levels.


Assuntos
Ácidos Heterocíclicos/análise , Ácidos Carboxílicos/análise , Queijo/análise , Ácido Acético/análise , Ácido Butírico/análise , Queijo/microbiologia , Cromatografia Líquida de Alta Pressão/métodos , Ácido Cítrico/análise , Fermentação , Tecnologia de Alimentos , Formiatos/análise , Ácido Láctico/análise , Ácido Orótico/análise , Propionatos/análise , Ácido Pirúvico/análise , Análise de Regressão , Fatores de Tempo , Ácido Úrico/análise
8.
Pediatr Nephrol ; 16(7): 601-3, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11465812

RESUMO

Reversible posterior leukoencephalopathy syndrome is an increasingly recognized brain disorder most commonly associated with hypertension, toxemia of pregnancy, or the use of immunosuppressive agents. Its clinical features include headache, decreased alertness, mental abnormalities, such as confusion, diminished spontaneity of speech, changed behavior ranging from drowsiness to stupor, seizures, vomiting, and abnormalities of visual perception like cortical blindness. Magnetic resonance imaging shows edematous lesions primarily involving the posterior supratentorial white matter and corticomedullary junction. We describe a 7-year-old uremic girl who developed neurological symptoms of posterior leukoencephalophaty syndrome during the course of acute poststreptococcal glomerulonephritis. Since the symptoms first appeared 24 h after a hypertensive crisis and the patient was uremic at the time of symptoms, we decided to report this patient to discuss the differential diagnosis of neurological symptoms developing during the course of acute poststreptococcal glomerulonephritis.


Assuntos
Encefalopatias/etiologia , Glomerulonefrite/complicações , Infecções Estreptocócicas/complicações , Doença Aguda , Encefalopatias/patologia , Criança , Feminino , Glomerulonefrite/patologia , Humanos , Hipertensão Renal/complicações , Imageamento por Ressonância Magnética , Infecções Estreptocócicas/patologia , Tomografia Computadorizada por Raios X
9.
J Laryngol Otol ; 112(1): 55-60, 1998 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9538447

RESUMO

Metastasis in the neck lymph system of primary tumours of the head and neck is frequently seen. In order to prevent this metastasis, neck dissection is carried out by various types of skin incisions. In this study, types of skin incision used in neck dissections were defined, and the advantages, disadvantages and results of J incisions, which have been performed on 320 radical neck dissection patients in our clinic between 1985-1996, were compared with those of other incision types.


Assuntos
Esvaziamento Cervical/métodos , Retalhos Cirúrgicos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Pele/irrigação sanguínea
10.
Br Poult Sci ; 37(5): 923-7, 1996 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-9034582

RESUMO

1. The effect in broilers of tibial dyschondroplasia (TD) on carcase part weights and bone characteristics was investigated by studying the progeny of 10 sires and 40 dams. The correlations between TD and bone variables were also estimated. 2. The incidence of TD was 59% at 42 d of age. There were no significant differences in slaughter weight of birds with and without TD. However, in females, breast weight was heavier in affected birds. Neck plus back weight of birds with TD was significantly heavier than in birds without TD. 3. Breast blister frequency of birds was independent of the presence of TD. 4. Birds with TD had longer bones than birds without TD. However, TD had no effect on tibiotarsus weight, width, ratio of tibiotarsal to body weight and ash. A negative correlation was observed between TD score and bone ash percentage.


Assuntos
Composição Corporal/fisiologia , Peso Corporal/fisiologia , Galinhas/fisiologia , Osteocondrodisplasias/veterinária , Doenças das Aves Domésticas/fisiopatologia , Tíbia/fisiopatologia , Animais , Feminino , Incidência , Masculino , Minerais/análise , Osteocondrodisplasias/patologia , Osteocondrodisplasias/fisiopatologia , Doenças das Aves Domésticas/epidemiologia , Doenças das Aves Domésticas/patologia , Índice de Gravidade de Doença , Tíbia/química , Tíbia/patologia
11.
J Anim Breed Genet ; 110(1-6): 105-13, 1993 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-21395708

RESUMO

SUMMARY: First lactation production records of pedigree Holstein-Friesian cows in the UK were analysed by an animal model, in order to estimate effects of heterosis and recombination loss between North American Holstein and European Friesian cattle and the influence of these effects on breeding value prediction. Coefficients of heterosis and recombination loss were fitted in the animal model as covariables and unknown parents were assigned to a varying number of genetic groups. The estimates of heterosis effects were 104 kg, 4.3 kg and 2.9 kg for milk, fat and protein yield, respectively, while the corresponding coefficients for recombination loss were -135 kg, -2.6 kg and -3.7 kg respectively. Neither the sire component of variance nor the heritability estimates were appreciably affected by the inclusion of heterosis and recombination loss in the model. Including both these effects in the breeding value estimation increased the predicted sire proof for fat plus protein of a typical F1 Holstein × Friesian sire by 3 kg. ZUSAMMENFASSUNG: Tiermodellschätzungen nicht-additiv genetischer Parameter bei Milchrindern und ihre Auswirkung auf Heritabilitätsschätzung und Zuchtwertvoraussage Laktationsleistungen von Herdbuch Holstein-Friesen Kühen im UK wurden mittels eines Tiermodells analysiert zur Schätzung der Wirkungen von Heterosis und Rekombinationsverlust zwischen nordamerikanischen Holstein und europäischen Schwarzbunten und Einfluß dieser Wirkungen auf Zuchtwahlvorhersagen. Koeffizienten für Heterosis und für Rekombinationsverlust wurden im Tiermodell als Co-Variable berücksichtigt und unbekannte Eltern einer unterschiedlichen Zahl genetischer Gruppen zugeordnet. Schätzungen der Heterosiswirkungen waren 104 kg, 4,3 kg und 2,1 kg für Milch-, Fett- Proteinmengen, während die diesbezüglichen Koeffizienten für Rekombinationsverlust -135, -2,6 und -3,7 kg waren. Weder die Vatervarianzkomponente noch Heritabilitätswerte wurden durch Berücksichtigung von Heterosis und Rekombinationsverluste im Modell tangiert. Berücksichtigung beider Wirkungen in der Zuchtwertschätzung erhöhte den geschätzten Vaterzuchtwert für Fett + Protein eines typischen F1 Holstein-Friesen-Stieres um 3kg.

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