A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother.

Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation carriers. Carriers of this balanced translocation usually have no clinical symptoms and are often identified after the birth of offspring with an unbalanced form of the translocation, the supernumerary der(22) t(11;22) syndrome. We report a 3-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother. He has several developmental delays; he is not independently ambulatory and language is significantly impaired. Using his peripheral blood, karyotyping was performed to define his multiple congenital anomalies, revealing the following chromosomal abnormality: 47, XY, +der(22)t(11;22)(q23.3;q11.2). To ascertain the origin and trait of this supernumerary marker chromosome [der(22)t(11;22)(q23.3;q11.2)], karyotyping of his parents was performed. The mother was found to be a balanced carrier: 46, XX, t(11;22) (q23.3; q11.2).

A case of treacher collins syndrome.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation.

Scintigraphic evaluation of small intestinal transit in the streptozotocin induced diabetic rats.

AIM: Small intestine (SI) transit in the streptozotocin (STZ) induced diabetic rats were examined by using 99mTc-mebrofenin scintigraphy. MATERIALS AND METHODS: Wistar albino rats (mean body weight: 220±12 g) were studied for both control (n=10) and diabetes mellitus (DM) (n=10) groups. Diabetes was induced by a single intraperitoneal injection of streptozotocin (50 mg kg(-1) body weight. SI transit time was assessed by measuring arrival times of 99mTc-mebrofenin from duodenum to caecum. RESULTS: The mean transit time of 99mTc- mebrofenin was 67.8±11 min in control group. The mean transit time of SI was prolonged in STZ induced diabetic animals with (111.9±12.5, p=0.01). There was significant correlation between small intestinal transit time and blood glucose level (r: 0.73, p=0.01). CONCLUSION: We observed that SI transit was prolonged in diabetic animals using 99mTc- mebrofenin, and additionally this technique is a readily available method for the detection of transit abnormalities in animal experiment.

Indoor airborne fungal spores and home characteristics in asthmatic children from Edirne region of Turkey.

BACKGROUND: The contribution of indoor fungal exposure to childhood asthma is not completely clear. OBJECTIVE: To investigate airborne fungal flora within the homes of asthmatic and control children, and to assess the influence of housing characteristics regarding indoor fungi. METHODS: Forty-seven atopic asthmatic and 23 nonatopic control children were studied. Allergen sensitivity was determined by skin prick tests. A thorough assessment, using a questionnaire and inspection surveys, was carried out. Home visits were made between October 2000 and February 2001. Samples of airborne fungal spores were collected from four rooms by the "open Petri dish" method. Indoor temperature and humidity were measured. RESULTS: The total indoor fungal colony counts from the living rooms and bedrooms were significantly higher in the asthma group than in controls (p = .012 and p = .003, respectively). The most commonly isolated genus was Cladosporium. Twelve of the asthmatic patients (25.53 %) were found to be sensitive to fungal allergens. The factors found to be associated with indoor fungal growth in logistic regression were visible fungal patches in the bathrooms [(odds ratio (OR) = 5.75; 95 % CI 1.19 to 27.70)], and the age of the house [OR = 4.24; 95 % CI 1.34 to 13.45]. Total fungal colony numbers did not correlate with indoor temperature or humidity. CONCLUSION: Fungal colony numbers were higher in the homes of asthmatic children than in those of controls. Therefore, indoor fungal exposure may contribute to childhood asthma. Bathrooms were the main source of fungal propagules. Old houses were more prone to fungal growth.

Indoor airborne fungal spores and home characteristics in asthmatic children from Edirne region of Turkey

Background: The contribution of indoor fungal exposure to childhood asthma is not completely clear. Objective: To investigate airborne fungal flora within the homes of asthmatic and control children, and to assess the influence of housing characteristics regarding indoor fungi. Methods: Forty-seven atopic asthmatic and 23 nonatopic control children were studied. Allergen sensitivity was determined by skin prick tests. A thorough assessment, using a questionnaire and inspection surveys, was carried out. Home visits were made between October 2000 and February 2001. Samples of airborne fungal spores were collected from four rooms by the "open Petri dish" method. Indoor temperature and humidity were measured. Results: The total indoor fungal colony counts from the living rooms and bedrooms were significantly higher in the asthma group than in controls (p = .012 and p = .003, respectively). The most commonly isolated genus was Cladosporium. Twelve of the asthmatic patients (25.53 %) were found to be sensitive to fungal allergens. The factors found to be associated with indoor fungal growth in logistic regression were visible fungal patches in the bathrooms [(odds ratio (OR) = 5.75; 95 % CI 1.19 to 27.70)], and the age of the house [OR = 4.24; 95 % CI 1.34 to 13.45]. Total fungal colony numbers did not correlate with indoor temperature or humidity. Conclusion: Fungal colony numbers were higher in the homes of asthmatic children than in those of controls. Therefore, indoor fungal exposure may contribute to childhood asthma. Bathrooms were the main source of fungal propagules. Old houses were more prone to fungal growth (AU)

Historial: La contribución al asma infantil a causa de la exposición a hongos de interior no está totalmente clara. Objetivo: Intentamos investigar la flora de hongos que se encuentra en el aire dentro de los hogares de los niños asmáticos y los niños controlados, así como determinar la influencia de las características de la casa respecto a los hongos de interior. Métodos: Cuarenta y siete niños asmáticos y veintitrés niños controlados no alérgicos. La reacción alérgica se determinó mediante pruebas de alergia. Se llevó a cabo una evaluación exhaustiva utilizando un cuestionario y encuestas de inspección. Las visitas domiciliarias fueron realizadas entre octubre de 2000 y febrero de 2001. Las muestras de las esporas de hongos aerotransportadas fueron recogidas en cuatro habitaciones por el método de la "placa de Petri abierta". Se midió la temperatura y la humedad interior. Resultados: El número total de hongos de interior en las salas de estar y en los dormitorios era notablemente más elevado en el grupo de asmáticos que en el otro grupo (p = ,012 y p = ,003, respectivamente). El género aislado más común fue el Cladosporium. Doce de los pacientes asmáticos (25,53 por ciento) resultaron ser sensibles a los hongos. La regresión logística puso en evidencia que las manchas de hongos visibles en los cuartos de baño [(cociente de las probabilidades (O) = 5,75; 95 por ciento del ci 1,19 a 27,70)], y la antigüedad de la casa [O = 4,24; 95 por ciento del ci 1,34 a 13,45], estaban correlacionados con el crecimiento de los hongos de interior. El número total de hongos de la colonia no está relacionado con la temperatura o la humedad interior. Conclusión: El número de hongos de la colonia era más elevado en los hogares de niños asmáticos que en los controlados. Por lo tanto, la exposición a hongos de interior puede contribuir al desarrollo del asma infantil. Los cuartos de baño eran la fuente principal de propagación de hongos. Las casas viejas eran más propensas al crecimientote los hongos (AU)

Systemic lupus erythematosus presenting with generalized lymphadenopathy: a case report.

Systemic lupus erythematosus (SLE) is an immune complex disease with many different clinical presentations. Here we report a 13-year-old female patient presenting with generalized lymphadenopathy, who meanwhile developed butterflly rash and pericarditis. The diagnosis of SLE was based on the clinical features, positive antinuclear antibody, and positive antibodies to dsDNA. The patient had an active disease and developed renal involvement, despite steroid therapy. The patient's clinical presentation, course and response to therapy are detailed, and the literature on lupus lymphadenitis is reviewed.

Thrombocytopenia: an important indicator for the application of partial exchange transfusion in polycythemic newborn infants?

BACKGROUND: The conventional therapeutic approach in polycythemic newborn infants is to apply partial exchange transfusion (PET) when hematocrit value exceeds 70% or when the infant develops symptoms with the exception of plethora. METHODS: In order to investigate the possibility of using platelet count as a simple criterion implying the PET requirement, we retrospectively reviewed polycythemic newborn infants with respect to the relationship between thrombocytopenia and severity of symptoms, and the association of platelet count and the PET performance. Thrombocytopenia has been defined as a platelet count < 150,000/microL. RESULTS: We studied 18 polycythemic infants with thrombocytopenia (group 1, 35%) and 34 without it (group 2, 65%). Perinatal asphyxia, gestational toxemia and intrauterine growth retardation, which are the three common causative factors leading to polycythemia, were not significantly different in the two groups. No correlation existed between platelet counts and hematocrit values within each group, but there was a very significant difference between the two groups in terms of severity of clinical findings (P < 0001); no difference in terms of moderate findings and moderately significant difference with respect to mild symptoms and asymptomatic situation (P < 0.05). Partial exchange transfusion was performed in all patients in group 1, while only 12 infants in group 2 (32%) received transfusion and the difference was statistically significant (P < 0.05). A significant rise in platelet counts has been achieved only in group 1, while hematocrit values decreased significantly in both groups following PET. CONCLUSIONS: This study emphasizes the relationship between thrombocytopenia and the severity of clinical findings and PET performance rate in polycythaemic newborn infants, implying that thrombocytopenia is a possible marker of hyperviscosity, the results of which warrant further investigation.