Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis

Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosis of Schinzel-Giedion syndrome. We describe the first Brazilian case of a newborn with typical facies, generalized hypertrichosis, cardiac and skeletal anomalies, and bilateral hydronephrosis detected during pregnancy and confirmed later by abdominal ultrasonography. Chromosomal constitution was normal. Of the 35 cases already reported in the literature, 31 presented hydronephrosis, which is considered an important clue in diagnosis. If Schinzel-Giedion syndrome were indexed as a cause of congenital hydronephrosis, its identification would be greatly facilitated, since the majority of the other findings in Schinzel-Giedion syndrome are nonspecific and common to many genetic syndromes.

Aortopulmonary window. Clinical and surgical assessment of 18 cases

OBJECTIVE: Aortopulmonary window (APW) is an uncommon congenital malformation. Its clinical presentation is dependent on the size of the defect and on the associated lesions. We evaluated our experience with this anomaly and compared it with 296 cases reported in the literature. METHODS: Retrospective study of 18 patients diagnosed as having APW (age range from 13 days to 31 years, 13 (72.2%) females), divided into two groups: Group A (GA): 10 patients with isolated APW, and Group B (GB): 8 patients with associated lesions. RESULTS: Heart failure occurred in 14 patients, and cyanosis in 3: 2 from GB (tetralogy of Fallot - TF, and double outlet right ventricle - DORV), and one from GA with pulmonary hypertension. In 5 patients from GA the diagnosis of mitral regurgitation was made based on a systolic murmur and LV hypertrophy on the EKG. In GB, clinical findings were determined by the associated defect. Diagnosis was established by echocardiography in 11 (61.2%) of the patients. In 3 patients, a wrong diagnosis of mitral regurgitation was made, in 1 a patent ductus arteriosus was diagnosed and in 3 others, the diagnosis of APW was masked by other important associated defects (2 cases of DORV and 1 case of TF). The diagnosis was made by catheterization in 3 (16.6%) patients, by surgery in 3 (16.6%) and by necropsy in 1 (5.5%). Corrective surgery was performed in 14 (77.7%) patients, with one immediate death and good long-term follow-up in the remaining patients. CONCLUSION: APW can be confused with other defects. Clinical findings, associated with an adequate echocardiogram can provide the information for the correct diagnosis.

Echocardiographic diagnosis of transposition of the great arteries associated with anomalous pulmonary venous connection

We report 2 cases of transposition of the great arteries associated with anomalous pulmonary venous connection emphasizing the clinical findings, the diagnosis, and the evolution of the association. One of the patients had the anomalous pulmonary venous connection in its total infradiaphragmatic form, in the portal system, and the other patient had a partial form, in which an anomalous connection of the left superior lobar vein with the innominate vein existed. At the time of hospital admission, the patients had cyanosis and respiratory distress with clinical findings suggesting transposition of the great arteries. The diagnosis in 1 of the cases, in which the anomalous connection was partial, was established only with echocardiography, without invasive procedures that would represent risk for the patient; in the other case, in which the anomalous connection was total, the malformation was only evidenced with catheterization. The patients underwent surgery for anatomical correction of the heart disease. Only 1 patient had a good outcome.

Supravalvular Congenital Mitral Stenosis

Congenital supravalvular mitral stenosis is a rare malformation characterized by the presence of a shelf-like fibrous membrane, with 1 or 2 small orifices, covering and obstructing the mitral valve. The membrane is positioned closely to the mitral valve (and sometimes it is attached to it); therefore, a preoperative diagnosis is inevitably difficult, even with the use of biplane echocardiography. Two patients with supravalvular mitral stenosis aged 3 years and 3 months are described. In 1 patient, a preoperative diagnosis was made, and both successfully underwent correction.

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

Effects of Laurus nobilis (Lauraceae) on Biomphalaria glabrata (Say, 1818)

Experiments were carried out using aqueous extracts from leaves and flowers of Laurus nobilis on Biomphalaria glabrata. Treatments were performed on blastula stage (± 15 h after first cleavage) and on adult snails (11-18 mm). In both instances they were exposed for 24 h to different concentrations of the extracts on snails (200 to 2500 ppm) and embryos (20 to 300 ppm) at 25 ± 1ºC. The embryos were observed for a period of 20 days after treatment and the snails for 10 days. Results obtained with leaf aqueous extracts have shown a degree of toxicity on embryos starting at a concentration of 125 ppm, the flower extract being effective at 35 ppm. The malformation obtained with the different concentrations falls into the unespecific type category, however some cephalic and shell malformations were found in embryos treated with concentrations over 50 ppm (leaves) and 25 ppm (flowers). The LD90 on adult snails obtained by treatments with flower and leaf extract was observed at concentrations of 340 ppm and 1900 ppm respectively.

Effect of diflubenzuron on immature stages of Haematobia irritans (L.) (Diptera: Muscidae) in Uberlândia, State of Minas Gerais, Brazil

Horn fly immatures were raised in media containing different concentrations of diflubenzuron in order to verify their susceptibility to this insect growth regulator (IGR). The 50% and 95% lethal concentrations of diflubenzuron for the population (LC50, LC95) were determined as well as the effect of this IGR on the different immature horn fly stages. The tests were performed using the progeny of adults collected in the field. The immatures were maintained in a growth chamber at 25.0 ± 0.5ºC and 12-12 h photoperiod. IGR concentrations of 300 ppb, 100 ppb and 50 ppb were lethal for 100% of the sample. Pupae malformation occurred in the breeding media containing different diflubenzuron concentrations. Values for LC50 , LC95 (± 95% fiducial limits) and the slope of the regression line were respectively, 25.521 ± 1.981 ppb, 34.650 ± 2.001 ppb and 12.720 ± 1.096. The third larval instar was more sensitive to the sub-lethal concentration of the product than the first and second ones were. The results indicate that this IGR can be an important tool for controlling horn fly populations as well as for managing horn fly resistance to conventional insecticides against Haematobia irritans in Uberlândia, State of Minas Gerais.

Nursing workload in specialized Semi-intensive Therapy unit: workforce size criteria

Abstract OBJECTIVE To assess the nursing workload (NW) in Semi-intensive Therapy Unit, specialized in the care of children with Craniofacial anomalies and associated syndromes; to compare the amount of workforce required according to the Nursing Activities Score (NAS) and the COFEN Resolution 293/04. METHOD Cross-sectional study, whose sample was composed of 72 patients. Nursing workload was assessed through retrospective application of the NAS. RESULTS the NAS mean was 49.5%. Nursing workload for the last day of hospitalization was lower in patients being discharged to home (p<0.001) and higher on the first compared to last day of hospitalization (p< 0.001). The number of professionals required according to NAS was superior to the COFEN Resolution 293/04, being 17 and 14, respectively. CONCLUSION the nursing workload corresponded to approximately 50% of the working time of nursing professional and was influenced by day and outcome of hospitalization. The amount of professionals was greater than that determined by the existing legislation.

Verificação da atividade condilar em pacientes com padrão esquelético classe III por intermédio da cintilografia óssea

OBJETIVO: Utilizar a cintilografia óssea facial para identificar o crescimento esquelético mandibular, através do metabolismo ósseo condilar de indivíduos com crescimento craniofacial equilibrado, e compará-lo à atividade condilar daqueles com crescimento mandibular excessivo. MATERIAIS E MÉTODOS: Quarenta e sete indivíduos, de ambos os sexos, entre 18 e 28 anos de idade, foram divididos em grupo controle - classe I (n = 13) - e grupo caso - classe III (n = 34). As imagens foram obtidas duas horas após injeção intravenosa de 200 µCi/kg de 99mTc-MDP. Foram realizadas incidências laterais do crânio e posterior da coluna lombar e a taxa de contagem foi determinada pela obtenção da média de contagem dos côndilos e da quarta vértebra lombar utilizando 300.000 contagens. RESULTADOS: Não foram encontradas captações condilares assimétricas em ambos os grupos, e apesar da ausência de significância estatística, os valores médios de captação condilar foram maiores no grupo caso. CONCLUSÃO: A média de captação aumentada indicou maior metabolismo ósseo condilar nos indivíduos classe III, sugerindo um provável crescimento mandibular residual. Mais estudos estão sendo realizados para aumentar esta amostragem.

Poland 's syndrome: radiologic findings

Poland's syndrome is a rare non-inherited congenital anomaly. The authors describe the classic radiologic findings of Poland's syndrome by reporting the case of a male four-year old patient with asymmetry of hands and chest, illustrating the fundamental imaging criteria for a conclusive diagnosis.

Malformações do sistema nervoso central e malformações associadas diagnosticadas pela ultrassonografia obstétrica

OBJETIVO: Identificar a prevalência de malformações congênitas do sistema nervoso central (SNC) e malformações associadas diagnosticadas pela ultrassonografia obstétrica. MATERIAIS E MÉTODOS: Estudo observacional, transversal, descritivo, em instituição de referência para gestações de alto risco. RESULTADOS: Malformações congênitas do SNC estiveram presentes sem outras malformações associadas em 65,78%, com a distribuição: hidrocefalia (37,5%), mielomeningocele (15%), encefalocele (12,5%), agenesia de corpo caloso (12,5%), anencefalia (12,5%), holoprosencefalia (7,5%), Dandy-Walker (7,5%), Arnold-Chiari (5,0%), hidranencefalia (5,0%), meningocele (5,0%), cisto aracnoideo (2,5%). Malformações congênitas de outros sistemas estiveram associadas às do SNC: craniofacial (73,9%), ortopédica (65,2%), cardiovascular (34,8%), geniturinária (30,4%), gastrintestinal (30,4%), respiratória (8,7%), sindrômica (8,7), oftalmológica (4,3%). A sensibilidade ultrassonográfica no estudo de malformações fetais do SNC foi 79,4%. A taxa de falso-negativos foi 20,5%. Dentre as limitações quantificáveis destaca-se o oligodrâmnio, presente em 25% dos falso-negativos. CONCLUSÃO: A ultrassonografia obstétrica possui boa sensibilidade no rastreio de malformações fetais do SNC, em especial com o aperfeiçoamento constante e domínio na utilização de métodos especializados, como o Doppler e a ultrassonografia volumétrica (3D/4D), contribuindo para firmar-se como modalidade de escolha nesta rotina. Complementar ao método, a ressonância magnética pode vir a fornecer subsídios para uma ainda melhor assistência perinatal.

Three new pathogens infecting antilles cherry in the State of Pará

When grown in monoculture, Antilles cherry (Malpighia glabra) plants have been affected by diseases which cause fruits malformation and spotting, reducing their value for market. From 1999 on, three new diseases characterised by leaf spot and fall of leaves have been observed in plantations located in Santa Izabel do Pará and Igarapé Açu counties. After isolation and pathogenicity tests on leaves of Antilles cherry plants, the isolates were identified as Calonectria ilicicola (anamorph: Cylindrocladium parasiticum) which causes large leaf spots reaching up to 7 cm long, brownish in colour, coalescent, scorching large leaf areas and causing 50% of leaf fall; Corynespora cassiicola, which provokes irregularly shaped, necrotic leaf spots with dark brown margins and white centers, surrounded by a yellow halo; and Myrothecium roridum which causes greyish target spots. Corynespora cassiicola has been reported causing leaf spots on different hosts in the Amazon region, while C. cassiicola has been recorded infecting Antilles cherry besides other hosts in the States of Maranhão and Pará.

Hemosuccus pancreaticus: causa rara de hemorragia digestiva maciça

Hemosuccus pancreaticus is a unusual syndrome manifested by hemorrhage into the pancreatic duct and by blood loss through the ampulla of Vater: It may be caused by tumors, arteriovenous malformation, pancreatic lithiasis, aneurism rupture from adjacent vessels, or erosion of pancreatic and peripancreatic vessels due to chronic pancreatitis. The authors describe a case of massive and recurrent gastrointestinal upper hemorrhage in a 26-year-old man without known risk factors for pancreatitis. This man underwent urgent surgery due to gastrointestinal bleeding during the ínvestigation. During the procedure, blood was found in the intestinal lumen and a tumor in the head of pancreas with two centimeters of diameter: A gastroduodenopancreatectomy was performed. Histological study showed chronic pancreatitis with a fistula from the pancreatic vessels to the Wirsung duct. The patient was discharged without postoperative complications and after months, remains assymptomatic.

Cisto de colédoco em adulto

Choledochal cyst is a rare congenital malformation of the biliary tree, and aproximately 25% of them are diagnosed in adults. Appropriate surgical management of these lesions depends on the anatomic site and extension of the cystic process. The recognized association of the bile duct cysts with hepatobiliary malignant disease has important surgical implications. Total cyst removal and cholecistectomy with Roux-en- Y hepaticojejunostomy was performed in a 47 year old female with a common bile duct cyst tipe 1 postoperative period was uneventful. A review of literature is presented.

Linfangioma cístico do fígado

Hepatic lymphangioma developed from a malformation that blocks the lymphatic system of a given area of the liver is a rare benign tumor observed most often in children and adolescents. The authors report and discuss a case of cystic lymphangioma of the liver in a 65 years old female patient, from a region where hydatid disease is endemic, with a complaint of epigastric pain, nausea, and vomiting. The patient presented a non-pulsatile mass, with severe pain at palpation in the epigastric region, The diagnostic investigation revealed a large cystic lesion in the left lobe of the liver; and she was submitted to bisegmentectomy II and III, which showed a hepatic lymphangioma. Considering the progressive character of this lesion, it should be carefully evaluated, since the removal of the lymphangioma is a safe, curative procedure.