Ehrenfried O. Wittig

Programa de triagem neonatal para fibrose cística no estado do Paraná: avaliação após 30 meses de sua implantação

OBJECTIVES To present and analyze the results of the National Neonatal Cystic Fibrosis Screening Program in Paraná, 30 months after its implementation. METHODS This is a descriptive study, with an analysis of the data from the screening of around 98% of all neonates in the period from September 2001 to April 2004, undertaken at the Neonatal Screening Program laboratory of the Fundação Ecumênica de Proteção ao Excepcional do Paraná. Blood samples for the Guthrie test were collected on hospital discharge, ideally between the second and sixth days postpartum, and filter papers were sent for immunoreactive trypsin assay by the immunofluorometric method. Children whose immunoreactive trypsin assay results were > or = 70 ng/ml for two distinct samples during the first 30 days of life, were referred for sweat conductivity testing by the Wescor method. In cases when the result was greater than 50 mMol/l quantitative chlorine and/or sodium in sweat was assayed (iontophoresis with pilocarpine). RESULTS From a total of 456,982 tests, 4,028 (0.9%) children presented a first immunoreactive trypsin assay above the cutoff point set. Four hundred and seventy-eight of these (12.5%) also had a second blood sample assayed with immunoreactive trypsin above 70 ng/ml and 56 (11.7%) of these were referred to specialized clinics after their sweat conductivity test results were above 50 mMol/l and 48 (0.01% of the total number of children screened) had a diagnosis of cystic fibrosis confirmed. The incidence for the state of Paraná was 1:9,520, although some children have not yet been fully investigated. CONCLUSIONS Neonatal screening for cystic fibrosis in the State of Paraná, in accordance with Health Ministry directives, was a pioneering initiative for Brazil. Many patients were diagnosed early, even asymptomatic ones, which is a challenge to improving prognosis with this fatal disease.

Prevalência da hemoglobina S no Estado do Paraná, Brasil, obtida pela triagem neonatal

The Brazilian Ministry of Health created the National Neonatal Screening Program under ruling no. 822/2001, including neonatal screening for hemoglobinopathies. In the State of Paraná, neonatal screening is conducted by the Ecumenical Foundation for the Protection of the Handicapped. The prevalence rates were determined for homozygous and heterozygous hemoglobin S and Sbeta-thalassemia. Blood samples drawn on filter paper were examined by isoelectric focusing (IEF) and high-performance liquid chromatography (HPLC). From January 2002 to December 2004, 548,810 newborns were screened, with the detection of 21 with FS, two FSA/FS, and four FSA. After confirmatory tests at six months of age, 12 were defined as sickle-cell anemia, or a prevalence of 2.2:100,000 newborns; Sbeta-thalassemia was confirmed in 15 (2.7:100,000 newborns); and 8,321 newborns were diagnosed as heterozygous HbS (1,500:100,000 newborns). HbS prevalence in Paraná (in southern Brazil) is lower than in the Central-West, North, and Northeast of the country. Ethnic origin of the population, fetal deaths, and non-random procreation may contribute to the relatively low number of homozygous individuals in the State. Sbeta-thalassemia interaction suggests the presence of Euro-Mediterranean peoples in this populations miscegenation.The Brazilian Ministry of Health created the National Neonatal Screening Program under ruling no. 822/2001, including neonatal screening for hemoglobinopathies. In the State of Parana, neonatal screening is conducted by the Ecumenical Foundation for the Protection of the Handicapped. The prevalence rates were determined for homozygous and heterozygous hemoglobin S and Sb-thalassemia. Blood samples drawn on filter paper were examined by isoelectric focusing (IEF) and high-performance liquid chromatography (HPLC). From January 2002 to December 2004, 548,810 newborns were screened, with the detection of 21 with FS, two FSA/FS, and four FSA. After confirmatory tests at six months of age, 12 were defined as sickle-cell anemia, or a prevalence of 2.2:100,000 newborns; Sb-thalassemia was confirmed in 15 (2.7:100,000 newborns); and 8,321 newborns were diagnosed as heterozygous HbS (1,500:100,000 newborns). HbS prevalence in Parana (in southern Brazil) is lower than in the Central-West, North, and Northeast of the country. Ethnic origin of the population, fetal deaths, and non-random procreation may contribute to the relatively low number of homozygous individuals in the State. Sb-thalassemia interaction suggests the presence of Euro-Mediterranean peoples in this populations miscegenation.

Ocular cysticercosis: an epidemiological study

The objective of the research was to verify the incidence of the ocular form of cysticercosis among the patients who consulted professionals of the field, during the first statistic inventory accomplished in the State of Paraná, Brazil. The 1996 research was performed through a questionnaire sent to all 220 members of Paraná Ophthalmology Association and to the 17 members of Pathology and Cytology Department of the Paraná Medical Association. A pre-stamped envelop for the return of the answers was included in the package. We received 99 answers from ophthalmologists and 10 answers from pathologists. Retrospective and epidemiological research about the incidences of the ocular cysticercosis in the State of Paraná, added to national related published reports, rendered 95 cases probably acquired in Paraná, 71 of the cases were referred in this research and 24 in prior publication. The most frequent localization was vitreous and subretinal, as literature had already pointed out.

Neuroblastomicose: registro de três casos

Three cases of neuroblastomycosis (case 1 with cerebellar granuloma; case 2 with brain stem and cerebral abscesses; case 3 with encephalic granulomas) are reported. The cerebellar tumour form had an associated cerebral cysticercosis. No spinal cord alterations were found in the case in which this part of the central nervous system was examined (case 2).

Nevralgia do occipital maior associada a lesão osteolítica occipital: relato de caso

The anatomic distribution of the greater occipital nerve during its path permits a close relationship with muscular structures, tendons, vessels and bones. The rupture of this relationship can origin its irritation and headache. We describe an uncommon association between an osteolytic lesion on occipital bone and greater occipital nerve. The patient, female 50, has been presenting headache for two years on the right occipital region spreading to the hemicranic and ipsilateral supraorbital region. The symptoms started spontaneously or by pressure on the trapezius tendon. The pain lasted about 30 minutes, compressive, mild intensity, with no autonomic symptoms and no improvement after the infiltration in the greater occipital nerve. The total improvement of the symptoms after releasing the nerve has allowed us to associate this lesion to the presence of algic symptoms.

Neurocisticercose na infância: I. diagnóstico clinico e laboratorial

Clinical and laboratory findings among 34 children (age range from 15 months to 13 years) with neurocysticercosis were reviewed. The main symptoms were: intracranial hypertension, 21 cases (62%); epilepsy, 20 cases (59%); hemiplegia, 4 cases (12%). Computed tomography (CT) in 33 children showed typical brain active cysts in 26 patients (79%) and calcifications in 2 (6%). The complement fixation reaction or the indirect immunofluorescent test for cysticercus antibody were positive in CSF in 77% (20 out of 26 patients) and serum in 78% (18 out of 23 patients). CSF pleocytosis was found in 57% of the cases (15/26 patients) with eosinophil cells in 27% (7/26 patients). The most efficient diagnostic test was CT scan of the head, and was confirmed immunologically by measurement of cysticercus antibody titers in CSF and serum.

Neurocisticercose na infância: II. tomografia computadorizada de 24 pacientes em relação ao tratamento sintomático e com praziquantel

We studied 24 children (15 months to 13 years old) which clinical, CSF and CT findings were compatible to the diagnosis of active neurocysticercosis. The patients were divided into three groups based on the type of treatment: Group I (10 patients) treated with analgesics and/or anticonvulsants; Group II (4 patients) treated with analgesics and or anticonvulsants and corticosteroids; Group III (10 patients) treated with analgesics and/ or anticonvulsants, corticosteroids and praziquantel. The first patients CT scan were compared with the sequential CT scan findings (1 month to 5 years). The initial CT scan of 12 patients showed multiple active cysts, in 5 patients an isolated active cyst, in 3 patients partial calcified cysts, in 2 patients cerebral edema and in 2 patients were normal. The final results of the three groups of patients, as far as concern the normalization of CSF abnormalities or calcification of the cysts were the same, no matter the type of treatment applied to them. These results, although the small number of patents, showed that most of the children have good final results, with improvement of clinical symptoms and CT findings. We suggest that neurocysticercosis in children need multicenter study. So, a great number of patients can be followed and better definition can be established on the treatment of neurocysticercosis.We studied 24 children (15 months to 13 years old) which clinical, CSF and CT findings were compatible to the diagnosis of active neurocysticercosis. The patients were divided into three groups based on the type of treatment: Group I (10 patients) treated with analgesics and/or anticonvulsants; Group II (4 patients) treated with analgesics and or anticonvulsants and corticosteroids; Group III (10 patients) treated with analgesics and/or anticonvulsants, corticosteroids and praziquantel. The first patients CT scan were compared with the sequential CT scan findings (1 month to 5 years). The initial CT scan of 12 patients showed multiple active cysts, in 5 patients an isolated active cyst, in 3 patients partial calcified cysts, in 2 patients cerebral edema and in 2 patients were normal. The final results of the three groups of patients, as far as concern the normalization of CSF abnormalities or calcification of the cysts were the same, no matter the type of treatment applied to them. These results, although the small number of patients, showed that most of the children have good final results, with improvement of clinical symptoms and CT findings. We suggest that neurocysticercosis in children need multicenter study. So, a great number of patients can be followed and better definition can be established on the treatment of neurocysticercosis.

Meningencefalite a mucormicose

A case of meningoencephalitis due to mucormycosis in a 8 months-old pacient is reported. The diagnosis was made at necropsy.

Meningencefalite a aspergillus

A case of meningencephalitis due to Aspergillus in a 39 days-old boy is reported. The diagnosis was made by post-morten examination. It seems to be the first case of aspergiloris reported in Brazil.

Leucodistrofia metacromática infantil em gêmeos

The authors report two cases of infantile metachromatic leucodystrophy in monozygotic female twins, born from a second cousin marriage (f = 1/32). The zygosity was determined by means of obstetrics and genetics marker findings.The authors report two cases of infantil metachromatic leucodystrophy in monozygotic female twins, born from a second cousin marriage (f=1/32). The zygosity was determined by means of obstetrics and genetics marker findings.