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Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and steatosis. Microscopically, intrahepatic cytoplasmic inclusions and fibrosis are seen. We report a five-year-old male patient who presented a severe episode of acute liver failure (ALF). Exome sequencing identified compound heterozygous pathogenic/likely pathogenic variants in the NGLY1 gene: NM_018297.3:c.1891del, p.(Gln631Serfs*7) in exon 12 and NM_018297.3:c.531dup, p.(Asn178Glnfs*9) in exon 4. Serology for the most frequent viral hepatitis infections, autoimmune panel, and investigations for metabolic or toxic causes were also normal or negative. Hepatic disease resolved favorably after 46 days. Liver function tests and elastography remains normal after a 2-year follow-up. This is the first report of a reversible ALF among patients with NGLY1-CDDG. Although its definitive cause remains unknown, we suggest a direct relation between liver disease and mitochondrial respiratory chain damage in the context of impaired NGLY1 gene function. Further reports are required in order to know the long-term prognosis of ALF in patients with NGLY1-CDDG.
Assuntos
Defeitos Congênitos da Glicosilação/patologia , Falência Hepática Aguda/etiologia , Peptídeo-N4-(N-acetil-beta-glucosaminil) Asparagina Amidase/genética , Pré-Escolar , Defeitos Congênitos da Glicosilação/complicações , Defeitos Congênitos da Glicosilação/genética , Humanos , Fígado/patologia , Falência Hepática Aguda/patologia , Masculino , MutaçãoRESUMO
BACKGROUND: The presence of Aspergillus in the central nervous system (CNS) is rare in immunocompetent patients but not in immunocompromised patients who may have a more common infection. This article describes a case of an adult immunocompetent patient with a diagnosis of cerebral aspergillosis and with a clinical process of rapidly progressive dementia which simulated a Creutzfeldt-Jakob syndrome. CASE DESCRIPTION: A 34-year-old adult was previously healthy and had no medical history of any significance. The patient had suffered only facial trauma 8 months before admission. One month prior to admission, he showed rapidly progressing changes in his behavior and higher mental functions. He was admitted to the emergency room with an occipital headache with 2 months of history. By the time he arrived, he suffered from total disability and was prostrate. He was diagnosed with meningeal and demential syndrome in the process of being studied. After starting the diagnostic approach by investigating cerebrospinal fluid, a magnetic resonance of the skull, an electroencephalogram, a brain biopsy was indicated. The histopathological study reported the presence of the hyphae characteristics of Aspergillus. The patient died 7 days after the diagnosis. CONCLUSION: Cerebral aspergillosis is a common aggressive disease in immunosuppressed patients. However, the disease is rare in individuals with respected immunity and in individuals with neurological impairment and a rapid and progressive deterioration of mental functions. The suspected diagnosis should always be considered given its poor prognosis and the encouraging efficacy of antifungal treatment administered in a timely manner.
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INTRODUCTION: Localized scleroderma is an inflammatory disease in its first stages and a fibrotic process in later stages, principally mediated by the transforming growth factor ß. To date, there is no standard treatment. The objective of this study was to determine the effectiveness and safety of 8% pirfenidone gel in patients with localized scleroderma. METHODS: This was an open phase II clinical trial that included 12 patients. Treatment with pirfenidone was indicated, three times daily for 6 months. Patients were evaluated clinically with the modified Localized Scleroderma Skin Severity Index (mLoSSI), as well with a durometer and histologically using hematoxylin and eosin stain and Masson's trichrome stain. RESULTS: The baseline mLoSSI average scores were 5.83 ± 4.80 vs. 0.83 ± 1.75 (P = 0.002) at 6 months. The initial durometer induration of the scleroderma plaques was 35.79 ± 9.10 vs. 32.47 ± 8.97 at 6 months (P = 0.05). We observed histopathological improvement with respect to epidermal atrophy, inflammation, dermal or adipose tissue fibrosis and annex atrophy from 12.25 ± 3.25 to 9.75 ± 4.35 (P = 0.032). The 8% pirfenidone gel application was well tolerated, and no side effects were detected. CONCLUSIONS: This is the first study on the therapeutic use of pirfenidone gel in localized scleroderma. It acts on both the inflammatory and the fibrotic phases. Considering its effectiveness, good safety profile and the advantage of topical application, pirfenidone is a treatment option in this condition.
Assuntos
Anti-Inflamatórios não Esteroides/administração & dosagem , Piridonas/administração & dosagem , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/tratamento farmacológico , Administração Tópica , Adulto , Analgésicos/administração & dosagem , Feminino , Géis , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Plasmablastic lymphoma is an aggressive variant of large B-cells lymphoma in which the infection by Human Immunodeficiency Virus and Epstein-Barr herpesvirus are involved. This recently denominated neoplasia has a special tropism through the oral cavity. However, its presence has been reported in the digestive tract, abdominal cavity and retroperitoneum. We describe two Human Immunodeficiency Virus infected patient cases with rectal presentation of PL in the HIV service of the Hospital Civil de Guadalajara.
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Digital infrared thermal imaging is used to assess noninvasively the severity of burn wounds in 13 pediatric patients. A delta-T (ΔT) parameter obtained by subtracting the temperature of a healthy contralateral region from the temperature of the burn wound is compared with the burn depth measured histopathologically. Thermal imaging results show that superficial dermal burns (IIa) show increased temperature compared with their contralateral healthy region, while deep dermal burns (IIb) show a lower temperature than their contralateral healthy region. This difference in temperature is statistically significant (p<0.0001) and provides a way of distinguishing deep dermal from superficial dermal burns. These results show that digital infrared thermal imaging could be used as a noninvasive procedure to assess burn wounds. An additional advantage of using thermal imaging, which can image a large skin surface area, is that it can be used to identify regions with different burn depths and estimate the size of the grafts needed for deep dermal burns.
Assuntos
Queimaduras/diagnóstico , Queimaduras/patologia , Processamento de Imagem Assistida por Computador/métodos , Pele/química , Pele/patologia , Termografia/métodos , Adolescente , Queimaduras/classificação , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Raios Infravermelhos , Masculino , Gravidade do PacienteRESUMO
The purpose was to evaluate the nutritional status of vitamin A in preschool children with ocular diseases attending to the Hospital Civil of Guadalajara. In a cross sectional design 100 preschool children between 24 and 71 mo of age with ocular diseases were included. Vitamin A intake was evaluated by 24 h dietetic recall, plasma Retinol concentration by high pressure liquid chromatography (HPLC); and, conjunctiva impression cytology (CIC) was carried out by a trained pathologist. ANOVA and U Mann Whitney tests, and also Spearman correlations were estimated. There were 44.1% females and 55,9% males. Strabismus was the most common disease (41,9%), conjunctivitis (19,4%), and congenital diseases (17,2%). The mean intake of Vitamin A was 374 microg/d +/- 706 and the serum concentration of retinol was of 30 microg/dL +/- 7,6; CIC was normal in 75,6%. The percentage of vitamin A deficiency was 3,2% according to the serum concentration of Retinol and 3,5% to the CIC criteria. It was not association between the nutritional status of vitamin A and ocular diseases. A positive correlation between vitamin A intake and weight/height index (r = 0,244) was found. In conclusion, most preschool children covered the dietary reference intake recommendation of vitamin A; deficiency of this vitamin was lower and, it was not associated to ocular diseases.
Assuntos
Túnica Conjuntiva , Oftalmopatias/etiologia , Deficiência de Vitamina A/complicações , Vitamina A/sangue , Pré-Escolar , Cromatografia Líquida de Alta Pressão , Túnica Conjuntiva/patologia , Estudos Transversais , Oftalmopatias/patologia , Feminino , Humanos , Masculino , México , Acuidade Visual , Deficiência de Vitamina A/diagnósticoRESUMO
El propósito del estudio fue evaluar el estado nutricio de vitamina A en preescolares con padecimientos oculares que acuden al Hospital Civil de Guadalajara. En estudio transversal analítico se incluyeron por conveniencia 100 sujetos (24-71 meses) con padecimiento ocular. El consumo de vitamina A (VA), energía y macro nutrimentos se estimó con una encuesta dietética de recordatorio de 24 horas (EDR-24h). Mediante cromatografía líquida de alta presión (HPLC) se determinó la concentración sérica de retinol y se realizó una citología de impresión conjuntival (CIC) por un patólogo entrenado en la técnica. Se estimaron los índices talla/edad y peso/talla (Puntaje z) y se utilizaron las pruebas de ANOVA, U de Mann Whitney y de correlación de Spearman. Fueron niñas 44,1 por ciento y varones 55.9 por ciento. Los padecimientos oculares más frecuentes fueron: estrabismo (41,9 por ciento), conjuntivitis (19,4 por ciento) y padecimientos congénitos (17,2 por ciento). Según la EDR-24 h el consumo de vitamina A fue de 374 µg/día ± 706; la concentración de Retinol sérico 30 µg/dL ± 7,6 y CIC fue normal en 75,6 por ciento. Sólo 3.2 por ciento a 3,5 por ciento presentaron deficiencia de VA (concentración de retinol y CIC). No hubo asociación entre padecimientos oculares y deficiencia de VA. Hubo correlación positiva entre consumo de vitamina A e índice peso/talla (r = 0,244). En conclusión, la mayoría de los preescolares cubrió la ingestión recomendada de vitamina A, la deficiencia de esta vitamina fue baja y no se asoció a padecimientos oculares.
SUMMARY The purpose was to evaluate the nutritional status of vitamin A in preschool children with ocular diseases attending to the Hospital Civil of Guadalajara. In a cross sectional design 100 preschool children between 24 and 71 mo of age with ocular diseases were included. Vitamin A intake was evaluated by 24 h dietetic recall, plasma Retinol concentration by high pressure liquid chromatography (HPLC); and, conjunctiva impression cytology (CIC) was carried out by a trained pathologist. ANOVA and U Mann Whitney tests, and also Spearman correlations were estimated. There were 44.1 percent females and 55,9 percent males. Strabismus was the most common disease (41,9 percent), conjunctivitis (19,4 percent), and congenital diseases (17,2 percent). The mean intake of Vitamin A was 374 µg/d ± 706 and the serum concentration of retinol was of 30 µg/dL ± 7,6; CIC was normal in 75,6 percent. The percentage of vitamin A deficiency was 3,2 percent according to the serum concentration of Retinol and 3,5 percent to the CIC criteria. It was not association between the nutritional status of vitamin A and ocular diseases. A positive correlation between vitamin A intake and weight/height index (r = 0,244) was found. In conclusion, most preschool children covered the dietary reference intake recommendation of vitamin A; deficiency of this vitamin was lower and, it was not associated to ocular diseases.
Assuntos
Humanos , Feminino , Pré-Escolar , Criança , Nutrição da Criança , Deficiência de Vitamina A/dietoterapia , Oftalmopatias/diagnóstico , Oftalmopatias/dietoterapiaRESUMO
We report an unusual case of disseminated cutaneous sporotrichosis with oral mucous and tracheal involvement in a forty-year-old male with a history of heavy drinking and liver cirrhosis. We also review the literature and other similar published cases.