RESUMEN
A 5-month-old infant presented with bilateral abdominoscrotal hydroceles since birth and left leg edema and cyanosis. An ultrasound of the abdomen showed a cystic mass. Computed tomography showed a fluid filled mass extending intra-abdominally through the inguinal canal from the scrotum. A bilateral hydrocelectomy was performed, and the proximal sac was completely excised through the inguinal incision. The edema of the left leg resolved 2 days after surgery. The postoperative course was uneventful, without complication.
Asunto(s)
Cianosis/etiología , Edema/etiología , Hidrocele Testicular/complicaciones , Humanos , Lactante , Pierna , Masculino , Hidrocele Testicular/diagnóstico , Hidrocele Testicular/cirugíaRESUMEN
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.
Asunto(s)
Anomalías Múltiples/genética , Codón sin Sentido/genética , Anomalías del Ojo/genética , Cardiopatías Congénitas/genética , Anomalías Dentarias/genética , Anomalías Múltiples/diagnóstico , Adulto , Anomalías del Ojo/diagnóstico , Femenino , Genotipo , Cardiopatías Congénitas/diagnóstico , Humanos , Recién Nacido , Persona de Mediana Edad , Fenotipo , Síndrome , Anomalías Dentarias/diagnósticoRESUMEN
BACKGROUND: The objective of this study was to determine the prevalence of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency among the population of the Croatian Adriatic Coast, part of the Mediterranean basin. METHODS: The fluorescent spot test was used to screen 2,726 randomly selected high school students in the Croatian Adriatic coastal area. Fluorescence readings were performed at the beginning and at 3, 6, 10, and 25 min of incubation. Results were classified into the following three groups: bright fluorescence (BF), weak fluorescence (WF), and no fluorescence (NF). All NF and WF samples at 3 min were quantitatively measured using the spectrophotometric method. RESULTS: Twelve persons, 10 boys and 2 girls, were found to be deficient in G-6-PD, rendering a 0.44% prevalence of G-6-PD deficiency. All NF samples at fluorescent spot test were G-6-PD-deficient. WF at 3 min of the incubation period was present in 33 (1.2%) subjects, and only 2 (6%) were true positive. Fluorescence reading at 10 min of incubation omits five (41%) of the G-6-PD deficient samples. CONCLUSIONS: Prevalence of G-6-PD deficiency in the Croatian Adriatic coastal population is 0.44%. Fluorescent spot test for moderate enzyme deficiency is reliable in early fluorescence reading.
Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Adolescente , Croacia/epidemiología , Femenino , Glucosafosfato Deshidrogenasa/sangre , Humanos , Masculino , Prevalencia , Espectrometría de FluorescenciaRESUMEN
Two newborns, one male and one female, from two different families, with Ivemark syndrome proven at autopsy are reported. One of them had asplenia and another had polysplenia. Both newborns had complex cardiac defects with isomerism of the lungs. The newborn with asplenia had dextrocardia, transposition of the great vessels, stenosis of the pulmonary artery, common atrioventricular canal and patent ductus arteriosus. The newborn with polysplenia had a common atrium, hypoplastic left ventricle and patent ductus arteriosus. The patient with asplenia had cystic dilated collecting ducts of the kidney and the patient with polysplenia had cerebellar cyst. These associate malformations have not been reported previously. Both cases were sporadic.
Asunto(s)
Anomalías Múltiples , Cardiopatías Congénitas , Bazo/anomalías , Anomalías Múltiples/patología , Encefalopatías/patología , Quistes/patología , Resultado Fatal , Femenino , Cardiopatías Congénitas/patología , Humanos , Recién Nacido , Enfermedades Renales Quísticas/patología , Túbulos Renales Colectores/patología , Masculino , Bazo/patología , SíndromeRESUMEN
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. G6PD Mediterranean is caused by a C-->T transition at nucleotide 563, is characterized with less than 10% of normal enzyme activity and is classified as severe G6PD deficiency. Nineteen unrelated males from Southern Croatia with severe G6PD deficiency were tested, by enzyme digestion, for the presence of the Mediterranean mutation. Individuals with G6PD Mediterranean were further screened for the silent C-->T transition at nucleotide 1311. Four of the nineteen individuals were positive for the Mediterranean mutation (21%) and all four had the silent mutation.
Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa/genética , Croacia , Femenino , Heterocigoto , Humanos , Masculino , Mutación Puntual , Polimorfismo GenéticoRESUMEN
An infant with congenital syphilis associated with transient disturbances of lipoprotein metabolism is reported. The dominant clinical sign was hepatosplenomegaly. Laboratory investigation upon admission revealed hyperimmunoglobulinemia and hyperchylomicronemia. After the administration of penicillin, the chylomicronemia ceased, but an increase of very low density lipoprotein fraction was observed. As the infant recovered, all the laboratory findings returned to normal. Hyperchylomicronemia was attributed to hyperimmunoglobulinemia. Absorption of immunoglobulins to lipoproteins can inhibit lipoprotein lipase activity. The increase in the very low density lipoprotein fraction was probably caused by the increase in serum lipoprotein production and the decrease in lipoprotein clearance that are frequently seen in patients with infectious diseases.
Asunto(s)
Hiperlipoproteinemias/complicaciones , Sífilis Congénita/complicaciones , Femenino , Humanos , Hiperlipoproteinemias/sangre , Hiperlipoproteinemias/terapia , Lactante , Lipoproteínas/sangre , Sífilis Congénita/diagnóstico , Sífilis Congénita/tratamiento farmacológicoRESUMEN
The case of an infant, aged 2 months and 23 days, with chylous ascites after nephrectomy is reported. Nephrectomy was performed because of a large hydronephrosis. Chylous ascites was treated with medium-chain triglycerides, diet and cholestyramine. After 3 days the volume of the abdomen was reduced and on day 8 chylous ascites was not visible clinically or ultrasonographically.
Asunto(s)
Ascitis Quilosa/diagnóstico por imagen , Hidronefrosis/cirugía , Nefrectomía , Enfermedades Renales Poliquísticas/cirugía , Complicaciones Posoperatorias/diagnóstico por imagen , Ascitis Quilosa/dietoterapia , Dieta con Restricción de Grasas , Alimentos Formulados , Humanos , Hidronefrosis/diagnóstico por imagen , Lactante , Alimentos Infantiles , Masculino , Enfermedades Renales Poliquísticas/diagnóstico por imagen , Complicaciones Posoperatorias/dietoterapia , UltrasonografíaRESUMEN
This article presents a detailed analysis of sensor and surgical exotropias. Of the 669 operated esotropias 20 patients (2.98%) had surgical consecutive exotropia. Of the 1264 esotropias treated conservatively throughout several years, 7 patients (0.55%) showed sensor consecutive exodeviation. In both groups exotropia appeared in more than 60% of children after the age of 10 years. In 45% of the cases, surgical exodeviation appeared within 6 months of surgical treatment what suggests a wrong estimation of the situation. In the age from 2 to 5 years, 75% of the children were surgically treated. In 65% of the operated patients, several factors were present at the same time, such as amblyopia, anisometropia and vertical component.
Asunto(s)
Exotropía/cirugía , Niño , Preescolar , Exotropía/etiología , Humanos , RecurrenciaRESUMEN
The etiology and pathogenesis of PBS are still quite vague, despite very intensive investigations performed in that field. Numerous data can be found in the literature that contribute to the knowledge of PBS and to the explanation of this condition. Taking into consideration the data available (case descriptions, embryology, experimental embryology, genetics), PBS is meant to occur due to the disturbance of inductive interaction of tissues which leads to a deficient cell differentiation and to the disturbances of the primary field, resulting in multiple malformations which developmentally belong to the primary field in question. The causes inducing deficient tissue differentiation and the impediments disturbing inductive interaction are numerous and various. According to data in the literature, disturbances responsible for the occurrence of PBS can be induced by chemical agents (exposition to Tigan and Bendectin), mechanical agents (intrauterine edema), gene disturbances (described occurrence of PBS in a Nigerian family), and cases of PBS associated with chromosomal anomalies. The condition similar to PBS has been induced experimentally in animals by gene mutation (Danforth's short-tailed rats). If it is accepted that PBS is in a certain number of cases hereditary, it can be presumed that, according to the Nigerian authors, X related recessive transfer is involved here. As males suffering from PBS are sterile, they cannot transfer pathological genes, that is to say the disease itself. The only theoretical possibility for a female child whose karyotype is 46, XX, to be affected by PBS, would be when it inherits one affected X chromosome from its mother, while the second X chromosome has a mutation de novo. This could be an explanation for an extremely rare occurrence of PBS in female persons. The other explanation, according to McKusick, is that PBS can be also autosomally dominantly inherited (de novo mutation). The incidence of PBS in the female population is probably somewhat increased by "non-genic" etiological factors (chemical and mechanical agents). It is very difficult to say how strong is the influence of a certain factor on the occurrence of PBS. Therefore, it could be concluded that the etiology of PBS is heterogeneous, chromosomal, genic, and multifactorial, but regardless of the factor, it is always the primary field that is affected (in this case the ability of inductive interaction of the mesenchyme) leading to all other disturbances. Everything mentioned so far indicates that according to valid criteria, PBS can be regarded as a malformation, that is, a primary developmental disturbance.(ABSTRACT TRUNCATED AT 400 WORDS)
Asunto(s)
Síndrome del Abdomen en Ciruela Pasa , Humanos , Recién Nacido , Masculino , Síndrome del Abdomen en Ciruela Pasa/diagnóstico por imagen , Síndrome del Abdomen en Ciruela Pasa/etiología , Síndrome del Abdomen en Ciruela Pasa/patología , RadiografíaRESUMEN
The histological analysis of fetal vocal folds (in humans) in serial horizontal sections revealed a dense cell accumulation at the anterior and posterior ends of the vocal fold. Macula flava posterior was identified in all analysed specimens and macula flava anterior in those older than 18 weeks. Maculae flavae are composed of mesenchymal immature cells which gradually originate from cartilaginous cells of the arytenoid or mesenchymal immature cells of the anterior commissure tendon. Macula flava posterior presents the continuation of the arytenoid and there is no delineation between macula flava anterior and anterior commissure tendon. Since macula flava posterior extends its protrusion to the place of the most intensive connective tissue organization (which begins already in fetal life), it has been concluded that both maculae have an important influence to the specific organization and differentiation of connective tissue in the lamina propria of the fetal vocal fold.