Diagnosis, treatment and outcome of pheochromocytoma in a cat.

Pheochromocytoma in cats is a rare clinical condition characterised by the development of a secretory endocrine tumour that arises from the adrenal medulla. An 8-year-old castrated male, domestic shorthair cat was referred for further investigation of a 4-month history of progressive weight loss with normal appetite, polyuria/polydipsia, generalised weakness, and severe hypertension. Sonography and computed tomography of the abdomen disclosed a mass arising from the left adrenal gland. The contralateral adrenal gland was normal in size and shape. Results from a low dose dexamethasone suppression test and measurements of plasma aldosterone concentration and plasma renin activity ruled out a cortisol-secreting tumour and aldosteronoma. The clinical presentation made a sex-steroid secreting tumour unlikely. Increased plasma metanephrine and normetanephrine concentrations prioritised the differential diagnosis of pheochromocytoma. The cat underwent adrenalectomy of the left gland and histopathological diagnosis with immunohistochemical markers confirmed the diagnosis.

Monitoring psychoactive substance use at six European festivals through wastewater and pooled urine analysis.

The consumption of psychoactive substances is considered a growing problem in many communities. Moreover, new psychoactive substances (NPS) designed as (legal) substitutes to traditional illicit drugs are relatively easily available to the public through e-commerce and retail shops, but there is little knowledge regarding the extent and actual use of these substances. This study aims to gain new and complementary information on NPS and traditional illicit drug use at six music festivals across Europe by investigating wastewater and pooled urine. Samples were collected, between 2015 and 2018, at six music festivals across Europe with approximately 465.000 attendees. Wastewater samples were also collected during a period not coinciding with festivals. A wide-scope screening for 197 NPS, six illicit drugs and known metabolites was applied using different chromatography-mass spectrometric strategies. Several illicit drugs and in total 21 different NPS, mainly synthetic cathinones, phenethylamines and tryptamines, were identified in the samples. Ketamine and the traditional illicit drugs, such as amphetamine-type stimulants, cannabis and cocaine were most abundant and/or frequently detected in the samples collected, suggesting a higher use compared to NPS. The analyses of urine and wastewater is quick and a high number of attendees may be monitored anonymously by analysing only a few samples which allows identifying the local profiles of use of different drugs within a wide panel of psychoactive substances. This approach contributes to the development of an efficient surveillance system which can provide timely insight in the trends of NPS and illicit drugs use.

Marginal bone loss in the second molar related to impacted mandibular third molars: comparison between panoramic images and cone beam computed tomography.

BACKGROUND: Deciding whether or not to extract third molars remains a controversial situation in dental practice. Image exams support this decision by enabling a close view of the third molar, its adjacent bone and its relationship with the second molar. This study aimed to assess and compare second molar bone loss adjacent to impacted mandibular third molar in panoramic radiographs (PAN) and cone beam computed tomography (CBCT) scans. MATERIAL AND METHODS: A sample of 70 patients was selected (n=124 teeth). Each patient had a set of a panoramic radiograph and CBCT scans consecutively taken for dental treatment purposes. In PAN and CBCT, mandibular third molars were classified based on their position and bone loss of the adjacent second molar. Agreement between PAN and CBCT scans was assessed and quantified. RESULTS: Outcomes of bone loss assessment were different between PAN and CBCT scans (p<0.05). Bone loss was found in 62.9% of the PAN, while in CBCT scans it was found in 80%. In particular, nearly 29% (n=27) of the teeth that were classified without bone loss in PAN were classified with bone loss in CBCT scans. Mesioangular and horizontal third molars had a statistically significant association with bone loss of the adjacent second molars (p<0.05). In general, PAN underestimated the severity of bone loss compared to CBCT scans (p<0.05). CONCLUSIONS: Diagnosing second molar bone loss due to impaction of adjacent third molar in PAN may be challenging because of false negatives. Impacted third molars justify preoperative CBCT scans if second molar bone loss needs to be precisely assessed for a more detailed and reliable treatment plan.

Chromosomal constraints in Gram-positive bacteria revealed by artificial inversions.

We used artificial chromosome inversions to investigate the chromosomal constraints that preserve genome organization in the Gram-positive bacterium Lactococcus lactis. Large inversions, 80-1260 kb in length, disturbing the symmetry of the origin and terminus of the replication axis to various extents, were constructed using the site-specific Cre-loxP recombination system. These inversions were all mechanistically feasible and fell into various classes according to stability and effect on cell fitness. The L. lactis chromosome supports only to some extent unbalance in length of its replication arms. The location of detrimental inversions allowed identification of two constrained chromosomal regions: a large domain covering one fifth of the genome that encompasses the origin of replication (Ori domain), and a smaller domain located at the opposite of the chromosome (Ter domain).

[Central nervous system tuberculosis in children: 1. Clinical and laboratorial presentation]. / Tuberculose do sistema nervoso central em crianças: 1. Apresentação clínica e laboratorial.

Tuberculosis still occupies a remarkable place as a worldwide health problem, chiefly in emerging countries, like Brazil. The central nervous system (CNS) involvement by Mycobacterium tuberculosis is one of the most feared features of disease, because of its high morbidity and mortality. This study aimed to describe some epidemiological, clinical and laboratorial aspects of 52 children in a tertiary pediatric hospital with CNS tuberculosis. At diagnosis, the majority of patients showed low age, compromised nutritional status, previous contact with bacillary individuals, delayed or absent immunization, advanced neurological signs and compatible abnormalities in cerebrospinal fluid (CSF) analysis and in radiological findings. The etiologic agent was identified by staining methods or CSF and other fluids culturing in 40% of patients. In most cases, despite of suggestive clinical, epidemiological and laboratorial picture and feasibility of patients access to health care centres, therapy was started late.

[Central nervous system tuberculosis in children: 2. Treatment and outcome]. / Tuberculose do sistema nervoso central em crianças: 2. Tratamento e evolução.

Neurologic damage is usual after central nervous system (CSN) tuberculosis recovery. Treatment is long, difficult and prone to complications. Many factors are enrolled as prognostic determinants. This study aimed to describe the treatment and outcome of 52 children with CNS tuberculosis of a tertiary pediatric hospital. All of them received standard triple drug regimen, and 41 (78.8%) received corticosteroids as adjunctive therapy. Hydrocephalus was common (28 of 41 tested), but only 8 (15.4%) patients underwent ventricular shunt surgery. Hepatotoxicity to anti tuberculosis drugs occurred in 32 (61.5%) cases, but in only 3 (9.4%) drug substitution was necessary. There were 8 (15.4%) deaths and 24 (46.1%) cases developed neurologic damage after therapy. Patients who did not receive steroids during treatment and those with advanced neurological involvement at diagnosis showed a tendency to worse prognosis.

Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases.

INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68%) - all typical cases. In 8 patients (32%) (6 atypical and 2 typical), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. DISCUSSION: Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion.

The psychiatric symptoms of rheumatic fever.

OBJECTIVE: This study examined the frequency and age at onset of psychiatric disorders among children with rheumatic fever, Sydenham's chorea, or both and a comparison group. METHOD: Twenty children with rheumatic fever, 22 with Sydenham's chorea, and 20 comparison children were assessed by means of a semistructured interview and rating scales for tic disorders and obsessive-compulsive disorder. RESULTS: Obsessive-compulsive symptoms were more frequent in both the Sydenham's chorea and rheumatic fever groups than in the comparison group. The Sydenham's chorea group had a higher frequency of major depressive disorder, tic disorders, and attention deficit hyperactivity disorder (ADHD) than both the comparison and rheumatic fever groups. ADHD symptoms were associated with a higher risk of developing Sydenham's chorea. CONCLUSIONS: Both the rheumatic fever and Sydenham's chorea groups were associated with a higher risk of developing neuropsychiatric disorders than the comparison group. ADHD appears to be a risk factor for Sydenham's chorea in children with rheumatic fever.

Vaccine-associated paralytic poliomyelitis: a case report of domiciliary transmission.

Poliomyelitis associated with live strain vaccine is defined as the paralytic form of the acute anterior poliomyelitis related to the vaccine strain. Since these strains behave similarly to the wild-type virus, we can differentiate, epidemiologically, two types of vaccine-associated poliomyelitis: cases in which the patient was vaccinated and cases in which the patient had had contact with vaccinated individuals. We herein present the case of an unvaccinated child, with a clinical picture of an acute anterior poliomyelitis associated with the live strain vaccine, whose brother received the Sabin vaccine 20 days before the onset of the symptoms. Vaccine strain of the type 3 poliovirus was isolated in fecal culture and a presented mutation in nucleotide 472 (C-->U) in the 5' non-coding region, which is strongly related to the higher strain virulence.

Clinical and molecular analysis of spinal muscular atrophy in brazilian patients

As amiotrofias espinhais progressivas (SMAs) constituem as doenças degenerativas de origem genética letais mais comuns do sistema nervoso central e mais freqüentes dentre as doenças autossômicas recessivas após a mucoviscidose. A incidência estimada das SMAs e de aproximadamente 1:10.000 nativivos. Clinicamente, as SMAs säo classificadas em mais grave (doença de Werdnig-Hoffmann, tipo I), intermediária (tipo II) e tardia e benigna (doença de Kugelberg-Welander, tipo III). O gene para os três tipos de SMAs foi mapeado no cromossomo 5q11.2-13.3. Foram identificados dois genes candidatos na mesma regiäo: SMN (sobrevida do neurônio motor) e NAIP (proteína inibidora de apoptose neuronal). Estudamos ambos genes em 87 pacientes brasileiros (20 tipo I, 14 tipo II e 53 tipo III) pertencentes a 74 famílias, utilizando as técnicas de PCR e SSCP. Foi encontrada deleçäo nos exons 7 e/ou 8 do gene SMN em 69 por cento das famílias: 16/20 na tipo I, 9/12 na tipo II e 26/42 na tipo III. Dentre as 51 famílias com deleçäo, 44 tiveram deleçäo no exon 5 do gene NAIP foi encontrada em 7/20 na tipo I, 2/12 na tipo II e 1/42 na tipo III. Näo foi encontrada deleçäo nos genes SMN e NAIP nos 112 progenitores, 26 irmandades assintomáticas e 104 controles normais. Näo houve correlaçäo entre deleçäo de um ou ambos genes com a gravidade do quadro clínico.

Obsessive-compulsive and related symptoms in children and adolescents with rheumatic fever with and without chorea: a prospective 6-month study.

OBJECTIVE: The incidence and course of neuropsychiatric symptoms were determined in pediatric patients with rheumatic fever. METHOD: The Leyton Obsessional Inventory and National Institute of Mental Health Global Obsessive-Compulsive Scale were used to evaluate children and adolescents who had rheumatic fever with Sydenham's chorea (N=30) or without chorea (N=20). They were assessed three times over 6 months from the onset of rheumatic fever. Psychiatric diagnoses were also determined. RESULTS: Obsessive-compulsive symptoms abruptly appeared and peaked during the 2 months after the onset of rheumatic fever in 21 patients with chorea (70.0%) and were absent in all patients without chorea. Obsessive-compulsive disorder (OCD) was diagnosed in five patients with chorea (16.7%). CONCLUSIONS: The association between Sydenham's chorea and OCD supports suggestions that similar mechanisms involving the basal ganglia underlie both disorders. Obsessive-compulsive symptoms occurred at the beginning of rheumatic fever, so early psychopathological assessments are essential.

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy.

BACKGROUND: Misoprostol is commonly used to induce abortion in Brazil, and in other countries in South and Central America where abortions are illegal. However, misoprostol is not very effective in inducing abortions, and exposure to the drug in utero can cause abnormalities in the fetus. We aimed to define the common phenotypical effects of exposure to the drug. METHODS: We studied 42 infants from São Paulo, Brazil, who were exposed to misoprostol during the first 3 months of gestation, and then born with congenital abnormalities. We interviewed each of the infants' mothers to find out about misoprostol exposure and dosage. Each infant was physically examined by a geneticist or a neuropaediatrician. FINDINGS: 17 of the infants had equinovarus with cranial-nerve defects. Ten children had equinovarus as part of more extensive arthrogryposis. The most distinctive phenotypes were arthrogryposis confined to the legs (five cases) and terminal transverse-limb defects (nine cases) with or without Mobius sequence. The most common dose of misoprostol taken was 800 microg (range 200-16000 microg). INTERPRETATION: Deformities attributed to vascular disruption were found in these children. We suggest that the uterine contractions induced by misoprostol cause vascular disruption in the fetus, including brain-stem ischaemia. Information on the effects of taking misoprostol during pregnancy should be made more widely available, to dissuade women from misusing the drug.

PIP: In Brazil and other South and Central American countries where abortion is illegal, misoprostol is widely available and commonly used to induce abortion. However, misoprostol is not very effective as an abortifacient agent and can cause fetal abnormalities. The present study reviewed the cases of 42 infants from Sao Paulo, Brazil, who were exposed to misoprostol during the first trimester of pregnancy and then born with a congenital abnormality. 17 children had equinovarus with cranial nerve deficiencies and 10 had equinovarus as part of a more extensive arthrogryposis. The most distinctive phenotypes were arthrogryposis confined to the legs (5 cases) and terminal transverse limb defects (9 cases). Congenital hydrocephalus was present in 8 children. The most commonly taken dose of misoprostol was 800 mcg (range, 200-16,000 mcg). Greater awareness of the widespread use of misoprostol to induce abortion should lead to public health interventions to prevent teratogenic effects.

[Neonatal Streptococcus pyogenes meningitis and sagittal sinus thrombosis: case report]. / Meningite neonatal por Streptococcus pyogenes e trombose de seio sagital. Relato de caso.

We report a case of Streptococcus pyogenes meningitis in a 18 days year-old-girl with clinical course complicated by sagittal sinus thrombosis. Some aspects of the pathogenesis, treatment and follow-up of the disease are discussed. The world increase of serious streptococcal infections in the last 10 years, probably will become neonatal Streptococcus pyogenes meningitis more frequent in the future and it is important to be alert for the precocious diagnosis and the possible complications of that potentially lethal infection.

Sydenham's chorea.

Sydenham's chorea (SC) is a disorder of the central nervous system (CNS) characterized by sudden, involuntary, arrhythmic, clonic, and purposeless movements. SC appears to provide a model for understanding various neuropsychiatric dysfunctions. Its relationship with attentional deficits, obsessive-compulsive symptoms (OCS) as well as movement disorders provides support for the hypothesis of the involvement of the corticostriatal loops in the pathophysiology of the disorder.

[Neonatal bacterial meningitis: prospective study of the long-term outcome of 55 children]. / Meningite bacteriana neonatal: estudo prospectivo da evolução a longo prazo de 55 crianças.

Fifty-five infants who presented bacterial neonatal meningitis were prospectively studied to analyze the frequency and the type of sequelae. All the infants were full term newborns. There were 38 boys and 17 girls; the age of disease onset varied from 3 to 28 days. The causative organism was represented mainly by enterobacteriae. The median time of follow-up was 5 years. The frequency of neurologic sequelae was 63.7%, represented mainly by neuropsychomotor development delay (58.2%), hydrocephaly (45.5%) and convulsions (34.5%). Severe motor abnormalities ocurred in 23.6% of children (quadriplegia, diplegia, hemiparesia and ataxia). Convulsions in the acute phase of the disease and the positive cerebrospinal fluid culture were highly associated to sequelae. The school performance, obtained in 25 children, showed presence of disabilities in 48% of cases, which were significantly associated to mental retardation.

Síndrome do risco de morte súbita infantil / Near sudden infant death syndrome. A case report

A síndrome da morte súbita infantil, ou morte durante o sono, se dá em uma criança normal, após adormecer bem, sem causa aparente. É considerada, como a causa isolada, a mais frequente de morte no primeiro ano de vida, em estatísticas do exterior. Acredita-se ocorrer a morte por um distúrbio funcional dos centros respiratórios levando à apnéia. Em crianças encontradas flácidas em apnéia reversível após estimulaçäo ou ao despertar, denomina-se em "risco" da morte súbita infantil. Apresentamos um caso desta síndrome, com crises de cianose e apnéia durante o sono a partir do oitavo dia de vida. O paciente foi internado, feita a monitorizaçäo respiratória, submetido a registro polissonográfico de 24 horas. Näo foram detectadas causas justificando as apnéias. Foi medicado com aminofilina e constatou-se o desaparecimento das crises de apnéias no segundo mês de vida. Este trabalho permite evidenciar um caso de entidade pouco diagnosticada em nosso meio

Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy.

Misoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an abortifacient. Abortion is illegal in Brazil. An uncertain number of these abortion attempts are unsuccessful and the pregnancy continues. We report on 7 patients whose mothers attempted to abort using this drug in the first trimester of gestation without success. The 7 patients presented with limb defects and in 4 of them a diagnosis of Möbius sequence was made.