Phenotypes of sickle cell intensive care admissions: an unsupervised machine learning approach in a single-center retrospective cohort.

Sickle cell disease (SCD) is associated with multiple known complications and increased mortality. This study aims to further understand the profile of intensive care unit (ICU) admissions of SCD patients. In this single-center retrospective cohort (approval number 0926-11), we evaluated SCD-related ICU admissions at our hospital in São Paulo, Brazil. Admissions were clustered using clinical data and organ dysfunction at ICU admission. A hierarchical clustering method was used to distinguish phenotypes. From 140 admissions obtained, 125 were included. The mean age was 30 years, 48% were male, and SS genotype was predominant (71.2%). Non-surgical causes of admissions accounted for 85.6% (n = 107). The mean Sequential Organ Failure Assessment score (SOFA) was 4 (IQR 2-7). Vasopressors were required by 12% and mechanical ventilation by 17.6%. After analysis of the average silhouette width, the optimal number of clusters was 3: cluster 1 (n = 69), cluster 2 (n = 25), cluster 3 (n = 31). Cluster 1 had a mean age of 29 years, 87% of SS genotype, and mean SOFA of 4. Cluster 2 had a mean age of 37 years, 80% of SS genotype, and mean SOFA of 8. Cluster 3 had a mean age of 26 years, 29% of SS genotype, and mean SOFA of 3. The need for mechanical ventilation was 11.6%, 44%, and 9.7%, respectively. Mortality was significantly higher in cluster 2 (44%, p = 0.012). This cohort of critical SCD admissions suggested the presence of three different profiles. This can be informative in the ICU setting to identify SCD patients at higher risk of worse outcomes.

Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis.

BACKGROUND: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). In addition, different genotypes are identified as results of genetic tests in patients with suspected primary iron overload. In the present study, our aim was to evaluate whether domains of QL are different according to genotypic groups in patients suspected of HH. METHODS: Seventy-nine patients with primary iron overload were included and two genotypic groups were formed (group 1: homozygous genotype for the HFE p.Cys282Tyr mutation; group 2: other genotypes). RESULTS: Group 1 had higher means of plasma transferrin saturation (86 ± 19%) and serum ferritin (1669 ± 1209 ng/mL) compared to group 2 (71 ± 12%, 1252 ± 750 ng/mL, respectively; p = 0.001). Four domains were significantly different among groups 1 and 2: physical functioning (p = 0.03), bodily pain (p = 0.03), vitality (p = 0.02) and social functioning (p = 0.01). CONCLUSIONS: Our main finding was that patients with p.Cys282Tyr homozygosity had a worse QL scenario assessed by SF-36, compared with patients with iron overload without the same genotype. Being aware of this relationship between genotypes and QL might be helpful in the overall management of patients suspected of hereditary hemochromatosis.

Temporomandibular joint arthritis in sickle cell disease: a case report.

We report a rare case of aseptic arthritis in the temporomandibular joint of a patient with sickle cell anemia. A 22-year-old woman with sickle cell disease, in the 18th week of gestation, was referred by her hematologist to investigate a sudden mouth opening limitation and severe pain on her left cheek. The patient received a standard pain assessment protocol, clinical examination, and complementary exams (complete blood count, hemoglobin electrophoresis, blood solubility test, panoramic radiograph, and magnetic resonance imaging [MRI]). The blood results were consistent with a sickle cell crisis and the MRI showed an inflammatory process around the left temporomandibular joint. Treatment with opioid analgesics and blood transfusion provided good results. Sickle cell anemia is a disease that can cause arthritis of the temporomandibular joint, and although it is rare, clinicians should be attentive to the differential diagnosis in patients with this disease.

[Maternal and perinatal outcomes in pregnancies complicated by sickle cell diseases]. / Resultados maternos e perinatais em gestações complicadas por doenças falciformes.

PURPOSE: the aim of this study was to describe perinatal and maternal outcomes of pregnancies complicated by sickle cell disease (SCD), comparing to pregnancies of women with sickle cell trait (SCT). METHODS: this was a retrospective cohort study, covering the period from March 2001 to April 2008, which included all pregnant women with SCD (n=42) followed up at a university hospital in the Southeast region of Brazil. The maternal and perinatal outcomes were compared to those of pregnant women with SCT (n=56) who were followed up at the same service. RESULTS: SCD-SS was diagnosed in 42 (82.4%) pregnant women and SC in 9 (17.6%). Mean (±SD) maternal age was significantly lower in the SCD group (26.0 years) compared to SCT women (28.7±7.1 years; p=0.018). The following maternal complications were more common among women with SCD in comparison to SCT: urinary tract infection (25.5 versus 8.9%; p=0.04), pneumonia (23.5 versus 1.8%; p=0.002), pulmonary hypertension (15.7 versus 0%; p=0.002), and blood transfusion during delivery or postpartum (33.3 versus 5.4%; p=0.001). Adverse perinatal outcome was more frequent in the SCD group compared to the SCT group: prematurity (49 versus 25%, p=0.01); mean gestational age at delivery (35.2 versus 37.9 weeks, p<0.001); fetal distress (56.9 versus 28.6%, p=0.006); birth weight <2,500 g (62.7 versus 17.9%, p<0.001); mean birth weight (2,183 versus 2,923 g, p<0.001), and small for gestational age infants (29.4 versus 10.7%, p=0.029). Two maternal deaths (3.9%) occurred in the group with SCD. CONCLUSION: Pregnant women with SCD are at greater risk for maternal morbidity and for adverse perinatal outcomes than women with SCT.

Resultados maternos e perinatais em gestações complicadas por doenças falciformes / Maternal and perinatal outcomes in pregnancies complicated by sickle cell diseases

OBJETIVO: avaliar os resultados maternos e perinatais de gestações complicadas por doenças falciformes, comparando-as com portadoras de traço falciforme. MÉTODOS: este estudo é uma coorte retrospectiva, abrangendo o período de Março de 2001 a Abril de 2008, tendo sido incluídas todas as gestantes portadoras de doença falciforme (n=42) acompanhadas em hospital universitário da região sudeste do Brasil. Os resultados maternos e perinatais foram comparados com os de gestantes portadoras de traço falciforme (n=56) acompanhadas no mesmo serviço. RESULTADOS:a hemoglobinopatia SS foi diagnosticada em 42 gestantes (82,4 por cento) e a SC em nove (17,6 por cento). A idade materna foi significativamente menor no grupo com doença falciforme (média=26,0; SD=4,3) quando comparadas às com traço falciforme (média=28,7, DP=7,1; p=0,018). As seguintes complicações maternas foram significativamente mais frequentes no grupo com doença falciforme em comparação ao grupo com traço falciforme: infecção do trato urinário (25,5 versus 8,9 por cento; p=0,04), pneumonia (23,5 versus 1,8 por cento; p=0,002), hipertensão pulmonar (15,7 versus 0 por cento; p=0,002), e transfusão no parto/pós-parto (33,3 versus 5,4 por cento; p=0,001). Resultados perinatais adversos foram significativamente mais frequentes no grupo com doença falciforme quando comparados ao grupo com traço falciforme: prematuridade (49 versus 25 por cento; p=0,01), média da idade gestacional no parto (35,2 versus 37,9 semanas; p<0,001), diagnóstico de sofrimento fetal (56,9 versus 28,6 por cento; p=0,006), peso do recém-nascido <2.500g (62,7 versus 17,9 por cento; p<0,001), média do peso do recém-nascido (2.183 versus 2.923 g; p<0,001) e recém-nascidos pequenos para a idade gestacional (29,4 versus 10,7 por cento; p=0,02). Duas mortes maternas (3,9 por cento) ocorreram no grupo com doença falciforme. CONCLUSÕES: gestantes portadoras de doença falciforme apresentam maior risco para morbidade materna e resultados perinatais adversos quando comparadas às portadoras de traço falciforme.

PURPOSE: the aim of this study was to describe perinatal and maternal outcomes of pregnancies complicated by sickle cell disease (SCD), comparing to pregnancies of women with sickle cell trait (SCT). METHODS: this was a retrospective cohort study, covering the period from March 2001 to April 2008, which included all pregnant women with SCD (n=42) followed up at a university hospital in the Southeast region of Brazil. The maternal and perinatal outcomes were compared to those of pregnant women with SCT (n=56) who were followed up at the same service. RESULTS:SCD-SS was diagnosed in 42 (82.4 percent) pregnant women and SC in 9 (17.6 percent). Mean (±SD) maternal age was significantly lower in the SCD group (26.0 years) compared to SCT women (28.7±7.1 years; p=0.018). The following maternal complications were more common among women with SCD in comparison to SCT: urinary tract infection (25.5 versus 8.9 percent; p=0.04), pneumonia (23.5 versus 1.8 percent; p=0.002), pulmonary hypertension (15.7 versus 0 percent; p=0.002), and blood transfusion during delivery or postpartum (33.3 versus 5.4 percent; p=0.001). Adverse perinatal outcome was more frequent in the SCD group compared to the SCT group: prematurity (49 versus 25 percent, p=0.01); mean gestational age at delivery (35.2 versus 37.9 weeks, p<0.001); fetal distress (56.9 versus 28.6 percent, p=0.006); birth weight <2,500 g (62.7 versus 17.9 percent, p<0.001); mean birth weight (2,183 versus 2,923 g, p<0.001), and small for gestational age infants (29.4 versus 10.7 percent, p=0.029). Two maternal deaths (3.9 percent) occurred in the group with SCD. CONCLUSION: Pregnant women with SCD are at greater risk for maternal morbidity and for adverse perinatal outcomes than women with SCT.

Porfirias: quadro clínico, diagnóstico e tratamento / Porphyrias: clinical presentation, diagnosis and treatment

As porfirias são doenças incomuns e de herança genética na maior parte doscasos. As porfirias são divididas em eritropoiéticas, hepáticas agudas e hepáticas crônicas. Os subtipos de maior relevância clínica são a porfiria cutânea tarda e a porfiria intermitenteaguda. O diagnóstico das porfirias pode ser bastante difícil, dada a sobreposição de quadros clínicos e achados bioquímicos. A precisão do diagnóstico depende da dosagem de porfirinasurinárias e fecais, da análise da atividade enzimática de eritrócitos e, eventualmente, da pesquisa de mutações. O objetivo do presente artigo é realizar revisão literária das porfirias,com ênfase no diagnóstico e tratamento de seus diversos subtipos...

Porphyrias are uncommon diseases that have genetic inheritance in the majorityof the cases. Porphyrias are divided in: erythropoietic porphyria, acute hepatic porphyria and chronic hepatic porphyria. The subtypes with major clinical relevance are porphyria cutaneatarda and acute intermittent porphyria. Diagnosing porphyrias may be quite difficult, as there is significant overlapping between clinical and biochemical findings. The diagnosis depends on the measurement of urinary and fecal porphyrins, enzymatic analysis of erythrocytes and, eventually, analysis of mutations. The main purpose of this article is to make a review of porphyrias, with emphasis on diagnosis and treatment of its several subtypes...

Talidomida no tratamento de angiodisplasias intestinais em paciente com síndrome CREST: relato de caso e revisão da literatura / Thalidomide as a treatment of intestinal angiodisplastic lesions in a patient with CREST syndrome: case report and literature review

A anemia ferropriva grave secundária à hemorragia digestiva por angiodisplasias intestinais representa um grande desafio terapêutico. Comumente, as ectasias vasculares são múltiplas e dispersas ao longo do intestino, limitando a eficácia do tratamento hemostático local. Nos últimos anos houve significativo avanço no tratamento anti-angiogênico sistêmico das angiodisplasias intestinais, sendo talidomida a droga mais empregada para tal fim. Relatamos o caso de uma paciente de 49 anos com angiodisplasias intestinais secundárias a síndrome CREST (Calcinose, Raynaud, Dismotilidade Esofágica, Esclerodactilia e Telangiectasias). A paciente apresentava quadro de melena recorrente e alta necessidade transfusional, e não obteve resposta clínica após realização de enteroscopia e eletro-coagulação das lesões com plasma de argônio. Após a introdução de talidomida 100mg ao dia, a paciente evoluiu de forma bastante satisfatória. O caso apresentado neste texto, além de demonstrar sucesso da talidomida no tratamento de angiodisplasias intestinais refratárias à eletro-coagulação com plasma de argônio, também revela eficácia da droga na situação específica da síndrome CREST. Tal fato pode ser de grande valia quando da abordagem de hemorragia intestinal por angiodisplasias nesses pacientes, representando nova opção terapêutica...

The severe ferropenic anemia secondary to digestive bleeding due to intestinal angiodisplastic lesions represents a great challenge. Commonly, angiodisplastic lesions are multiples and disperse through the intestine and that fact limits local treatments. Over the last years, there was a great advance in the antiangiogenic treatment of intestinal angiodisplastic lesions and thalidomide was the most employed drug for this purpose. We report a case of a 49 year-old patient with intestinal angiodisplastic lesions due to CREST syndrome (Calcinosis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia). The patient presented repeated episodes of digestive bleeding and did not achieve clinical improvement after enteroscopy and argon plasma coagulation. The treatment consisting of the introduction of thalidomide 100mg per day demonstrated success. The case presented in this text reveals success in the use of thalidomide in the treatment of intestinal angiodisplastic lesions, probably representing a new therapeutic option...

Hemophagocytic syndrome associated with hepatitis A: case report and literature review.

Virus-Associated Hemophagocytic Syndrome (VAHS) is a severe hematological disorder related to some viral infections. It is an illness characterized by persistent fever, pancytopenia, splenomegaly, hyperferritinemia and, the most important, hemophagocytosis observed in the bone marrow, liver and/or lymph nodes. VAHS associated with hepatitis A virus infection is rarely described, despite the high incidence of this viral infection in the population in general. There is no consensus in the literature regarding the optimal treatment of VAHS. In this article the clinical features, presumed pathogenesis, diagnostic criteria and treatment of VAHS are discussed, including description of cases of VAHS related to hepatitis A virus infection found in the medical literature.

Hemophagocytic syndrome associated with hepatitis A: case report and literature review

Virus-Associated Hemophagocytic Syndrome (VAHS) is a severe hematological disorder related to some viral infections. It is an illness characterized by persistent fever, pancytopenia, splenomegaly, hyperferritinemia and, the most important, hemophagocytosis observed in the bone marrow, liver and/or lymph nodes. VAHS associated with hepatitis A virus infection is rarely described, despite the high incidence of this viral infection in the population in general. There is no consensus in the literature regarding the optimal treatment of VAHS. In this article the clinical features, presumed pathogenesis, diagnostic criteria and treatment of VAHS are discussed, including description of cases of VAHS related to hepatitis A virus infection found in the medical literature.

A síndrome hemofagocitária associada a vírus é uma doença hematológica grave relacionada com algumas síndromes virais. É doença caracterizada por febre persistente, pancitopenia, esplenomegalia, hiperferritinemia e hemofagocitose na medula óssea, fígado e/ou linfonodos. A síndrome hemofagocitária associada ao vírus da hepatite A é raramente descrita, apesar da alta incidência desta infecção viral na população como um todo. Não existem consensos na literatura a respeito do tratamento desta morbidade. Neste artigo, os aspectos clínicos, patogênese, critérios diagnósticos e tratamento da síndrome hemofagocitária associada a vírus, incluindo a descrição de casos publicados da síndrome associada ao vírus da hepatite A.