Pulmonary hemorrhage as a manifestation of systemic lupus erythematosus

The authors report a case of a 19-year-old woman admitted for the investigation of fever and hemolytic anemia for the previous 2 months. As an inpatient, she had convulsions and sudden loss of consciousness, developing hemoptysis, hypoxia, and respiratory insufficiency. Examination showed pericardial effusions on the echocardiogram and bilateral alveolar condensations on the thoracic radiograph. A hypothetical diagnosis of systemic lupus erythematosus was made, and measurement of the antinuclear factor was requested along with daily pulse therapy methylprednisolone, in spite of which the outcome was fatal. Afterwards, the result of the antinuclear factor test was positive, with a titer of 1:5120, showing a fine punctiform pattern, fulfilling the criteria for systemic lupus erythematosus according to the American College of Rheumatology. Secondary pulmonary hemorrhage in this connective tissue disease is an uncommon but serious complication that involves a high level of mortality in spite of intensive treatment, as is also reported in the literature.

Estocagem tecidual e utilização de lipídeos em Matrinxã, Brycon cephalus (Günther, 1869)

Os lipídeos exercem diversas funções biológicas, como constituintes de membranas, precursores de hormônios, e por seu alto conteúdo calórico, um eficiente composto para estoque de energia. Nos peixes, ao contrário dos mamíferos, os modelos de deposição lipídica são mais diversos. O objetivo deste trabalho foi avaliar a concentração de lipídeo total no plasma e nos tecidos somático e reprodutivo do matrinxã, Brycon cephalus, macho e fêmea, destacando alguns índices somáticos relacionados à dinâmica desse substrato. De outubro/97 a janeiro/99, foram amostrados, mensalmente, 8 a 12 peixes, totalizando 174 animais. Após anestesia, retirou-se sangue heparinizado para dosagem do triacilglicerol plasmático. Cada peixe foi mensurado e fígado, gônadas e gordura visceral retirados e pesados para cálculo do IHS (índice hepatossomático) IGS (índice gonadossomático) e IGVS (índice gorduro-viscerossomático). Os maiores teores do lipídeo total ocorreram no músculo vermelho, com aproximadamente 18%, seguido pelo fígado e gônadas com valores médios de 16,5%. O músculo branco apresentou o menor teor com 2,3%. A análise de variância dos IHS e IGVS mostrou que ambos apresentaram efeito significativo para bimestre, com índices mais baixos em períodos de temperaturas mais altas, e não significativo para sexo e a interação sexo e bimestre. O matrinxã estoca lipídeos em vários tecidos corpóreos incluindo gordura mesentérica, fígado, músculos e gônadas.

Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group.

Ultrasound scans in the mid-trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of cleft lip with or without cleft palate (CL(P)) and cleft palate (CP). All CL(P) and CPs suspected prenatally and identified at birth in the period 1996-98 were registered from 20 Congenital Malformation Registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK, Ukraine. These registries followed the same methodology. A total of 709,027 births were covered; 7758 cases with congenital malformations were registered. Included in the study were 751 cases reported with facial clefts: 553 CL(P) and 198 CP. The prenatal diagnosis by transabdominal ultrasound of CL(P) was made in 65/366 cases with an isolated malformation, in 32/62 cases with chromosomal anomaly, in 30/89 cases with multiple malformations and in 21/36 syndromic cases. The prenatal diagnosis of CP was made in 13/198 cases. One hundred pregnancies were terminated (13%); in 97 of these the cleft was associated with other malformations.

Impact of a Cleft Lip and/or Palate on Maternal Stress and Attachment Representations.

Objective : The announcement, prenatally or at birth, of a cleft lip and/or palate represents a challenge for the parents. The purpose of this study is to identify parental working internal models of the child (parental representations of the child and relationship in the context of attachment theory) and posttraumatic stress disorder symptoms in mothers of infants born with a cleft. Method : The study compares mothers with a child born with a cleft (n  =  22) and mothers with a healthy infant (n  =  36). Results : The study shows that mothers of infants with a cleft more often experience insecure parental working internal models of the child and more posttraumatic stress symptoms than mothers of the control group. It is interesting that the severity or complexity of the cleft is not related to parental representations and posttraumatic stress disorder symptoms. The maternal emotional involvement, as expressed in maternal attachment representations, is higher in mothers of children with a cleft who had especially high posttraumatic stress disorder symptoms, as compared with mothers of children with a cleft having fewer posttraumatic stress disorder symptoms. Discussion : Mothers of children with a cleft may benefit from supportive therapy regarding parent-child attachment, even when they express low posttraumatic stress disorder symptoms.

A 10-year experience in paediatric spontaneous cerebral hemorrhage: which children with headache need more than a clinical examination?

INTRODUCTION: When a child is seen in a clinic with a headache, stroke is certainly not the first on the list of differential diagnoses. In western countries, stroke is typically associated with adults and the elderly. Although rare, haemorrhagic strokes are not exceptional in the paediatric population, as their incidence is around 1/100 000/year. Prompt diagnosis is essential, since delayed treatment may lead to disastrous prognosis in these children. MATERIALS AND METHODS: This is a retrospective review of paediatric cases with spontaneous cerebral haemorrhage that presented in two university hospitals in the last ten years. The experience of these primary and tertiary referral centres comprises 22 consecutive cases that are analysed according to aetiology, presenting symptoms, treatment and outcome. RESULTS: 77% of the children diagnosed with haemorrhagic stroke presented with headaches. 41% of them had a sudden onset, while 9% developed headaches over a period of hours to weeks. While 9% presented only with headaches, the majority had either subtle (diplopia, balance problems) or obvious (focal deficits, unilateral weakness and decreased level of consciousness) concomitant neurological signs. 55% had an arteriovenous malformation (AVM), 18% had an aneurysm and 14% had a cavernous malformation. In 14% the aetiology could not be determined. The majority of haemorrhages (82%) were supratentorial, while 18% bled into the posterior fossa. All children underwent an emergency cerebral CT scan followed by specific investigations. The treatment was dependent on the aetiology as well as the mass effect of the haematoma. In 23% an emergent evacuation of the haematoma was performed. Two children (9%) died, and 75% had a favourable clinical outcome. CONCLUSION: Headaches in children are a common problem, and a small minority may reveal an intracranial haemorrhage with poor prognosis if not treated promptly. Although characterisation of headaches is more difficult in a paediatric population, sudden, unusual or intense headaches should lead to imaging work-up. Any neurological finding, even one as subtle as hemianopsia or dysmetria, should alarm the physician and should be followed by emergency imaging investigation. If the cerebral CT reveals a haemorrhage, the child should be referred immediately to a neurosurgical referral centre without further investigation. The outcome is grim for children presenting in coma with fixed, dilated pupils. The long-term result overall for children after spontaneous intracranial haemorrhage is not dismal and depends critically on specialised management.

Influence of the primary cleft palate closure on the future need for orthognathic surgery in unilateral cleft lip and palate patients.

The aim of the study was to determine the influence of the dissection of the palate during primary surgery and the type of orthognathic surgery needed in cases of unilateral total cleft. The review concerns 58 children born with a complete unilateral cleft lip and palate and treated between 1994 and 2008 at the appropriate age for orthognathic surgery. This is a retrospective mixed-longitudinal study. Patients with syndromes or associated anomalies were excluded. All children were treated by the same orthodontist and by the same surgical team. Children are divided into 2 groups: the first group includes children who had conventional primary cleft palate repair during their first year of life, with extensive mucoperiosteal undermining. The second group includes children operated on according to the Malek surgical protocol. The soft palate is closed at the age of 3 months, and the hard palate at 6 months with minimal mucoperiosteal undermining. Lateral cephalograms at ages 9 and 16 years and surgical records were compared. The need for orthognathic surgery was more frequent in the first than in the second group (60% vs 47.8%). Concerning the type of orthognathic surgery performed, 2- or 3-piece Le Fort I or bimaxillary osteotomies were also less required in the first group. Palate surgery following the Malek procedure results in an improved and simplified craniofacial outcome. With a minimal undermining of palatal mucosa, we managed to reduce the amount of patients who required an orthognathic procedure. When this procedure was indicated, the surgical intervention was also greatly simplified.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated clefts. Therefore, we hypothesized that some of the families classified as having non-syndromic inherited cleft lip and palate could have an IRF6 mutation. We screened in total 170 patients with cleft lip with or without cleft palate (CL/P): 75 were syndromic and 95 were a priori part of multiplex non-syndromic families. A mutation was identified in 62.7 and 3.3% of the patients, respectively. In one of the 95 a priori non-syndromic families with an autosomal dominant inheritance (family B), new insights into the family history revealed the presence, at birth, of lower lip pits in two members and the diagnosis was revised as VWS. A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). This consists of 2 nodules below the lower lip on the external side. In a 3rd multiplex family (family C), a de novo mutation was identified in an a priori non-syndromic CL/P patient. Re-examination after mutation screening revealed the presence of a tiny pit-looking lesion on the inner side of the lower lip leading to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance.

Prevalence at Birth of Cleft Lip With or Without Cleft Palate: Data From the International Perinatal Database of Typical Oral Clefts (IPDTOC).

As part of a collaborative project on the epidemiology of craniofacial anomalies, funded by the National Institutes for Dental and Craniofacial Research and channeled through the Human Genetics Programme of the World Health Organization, the International Perinatal Database of Typical Orofacial Clefts (IPDTOC) was established in 2003. IPDTOC is collecting case-by-case information on cleft lip with or without cleft palate and on cleft palate alone from birth defects registries contributing to at least one of three collaborative organizations: European Surveillance Systems of Congenital Anomalies (EUROCAT) in Europe, National Birth Defects Prevention Network (NBDPN) in the United States, and International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) worldwide. Analysis of the collected information is performed centrally at the ICBDSR Centre in Rome, Italy, to maximize the comparability of results. The present paper, the first of a series, reports data on the prevalence of cleft lip with or without cleft palate from 54 registries in 30 countries over at least 1 complete year during the period 2000 to 2005. Thus, the denominator comprises more than 7.5 million births. A total of 7704 cases of cleft lip with or without cleft palate (7141 livebirths, 237 stillbirths, 301 terminations of pregnancy, and 25 with pregnancy outcome unknown) were available. The overall prevalence of cleft lip with or without cleft palate was 9.92 per 10,000. The prevalence of cleft lip was 3.28 per 10,000, and that of cleft lip and palate was 6.64 per 10,000. There were 5918 cases (76.8%) that were isolated, 1224 (15.9%) had malformations in other systems, and 562 (7.3%) occurred as part of recognized syndromes. Cases with greater dysmorphological severity of cleft lip with or without cleft palate were more likely to include malformations of other systems.

c-Jun N-terminal kinase pathway inhibition in intracerebral hemorrhage.

Background: Inhibition of the c-Jun N-terminal kinase (JNK) pathway by the TAT-coupled peptide XG-102 (formerly D-JNKI1) induces strong neuroprotection in ischemic stroke in rodents. We investigated the effect of JNK inhibition in intracerebral hemorrhage (ICH). Methods: Three hours after induction of ICH by intrastriatal collagenase injection in mice, the animals received an intravenous injection of 100 mu g/kg of XG-102. The neurological outcome was assessed daily and the mice were sacrificed at 6 h, 1, 2 or 5 days after ICH. Results: XG-102 administration significantly improved the neurological outcome at 1 day (p < 0.01). The lesion volume was significantly decreased after 2 days (29 +/- 11 vs. 39 +/- 5 mm(3) in vehicle-treated animals, p < 0.05). There was also a decreased hemispheric swelling (14 +/- 13 vs. 26 +/- 9% in vehicle-treated animals, p < 0.05) correlating with increased aquaporin 4 expression. Conclusions: XG-102 attenuates cerebral edema in ICH and functional impairment at early time points. The beneficial effects observed with XG-102 in ICH, as well as in ischemic stroke, open the possibility to rapidly treat stroke patients before imaging, thereby saving precious time.

Symptomatic intracranial hemorrhage after stroke thrombolysis: the SEDAN score.

OBJECTIVE: A study was undertaken to develop a score for assessing risk for symptomatic intracranial hemorrhage (sICH) in ischemic stroke patients treated with intravenous (IV) thrombolysis. METHODS: The derivation cohort comprised 974 ischemic stroke patients treated (1995-2008) with IV thrombolysis at the Helsinki University Central Hospital. The predictive value of parameters associated with sICH (European Cooperative Acute Stroke Study II) was evaluated, and we developed our score according to the magnitude of logistic regression coefficients. We calculated absolute risks and likelihood ratios of sICH per increasing score points. The score was validated in 828 patients from 3 Swiss cohorts (Lausanne, Basel, and Geneva). Performance of the score was tested with area under a receiver operating characteristic curve (AUC-ROC). RESULTS: Our SEDAN score (0 to 6 points) comprises baseline blood Sugar (glucose; 8.1-12.0 mmol/l [145-216 mg/dl] = 1; >12.0 mmol/l [>216 mg/dl] = 2), Early infarct signs (yes = 1) and (hyper)Dense cerebral artery sign (yes = 1) on admission computed tomography scan, Age (>75 years = 1), and NIH Stroke Scale on admission (≥10 = 1). Absolute risk for sICH in the derivation cohort was: 1.4%, 2.9%, 8.5%, 12.2%, 21.7%, and 33.3% for 0, 1, 2, 3, 4, and 5 score points, respectively. In the validation cohort, absolute risks were similar (1.0%, 3.5%, 5.1%, 9.2%, 16.9%, and 27.8%, respectively). AUC-ROC was 0.77 (0.71-0.83; p < 0.001). INTERPRETATION: Our SEDAN score reliably assessed risk for sICH in IV thrombolysis-treated patients with anterior- and posterior circulation ischemic stroke, and it can support clinical decision making in high-risk patients. External validation of the score supports its generalization.