The Shading Sign: Is It Exclusive of Endometriomas?

OBJECTIVES: To investigate if the shading sign is an exclusive MRI feature of endometriomas or endometrioid tumors, and to analyze its different patterns. METHODS: Three hundred and fourty six women with adnexal masses who underwent 1.5/3-T MRI were included in this retrospective, board-approved study. The shading sign was found in 56 patients, but five cases were excluded due to lack of imaging follow-up or histological correlation. The final sample included 51 women. The type of tumor and the pattern of shading were recorded for each case. RESULTS: Thirty endometriomas and five endometrioid carcinomas were found. The remaining 16 cases corresponded to other benign and malignant tumors. The overall sensitivity, specificity, positive predictive value, and negative predictive value were 73%, 93%, 59%, and 96%, respectively. Restricting the analysis to cystic lesions without solid or fat component, sensitivity, specificity, positive predictive value, and negative predictive value were 73%, 96%, 94%, and 80%. Five shading patterns were identified: layering (15.7%), liquid-liquid level (11.8%), homogenous (45.1%), heterogeneous (11.8%), and focal/multifocal shading within a complex mass (19.6%). No significant correlation was found between these patterns and the type of tumor. CONCLUSIONS: The shading sign is not exclusive of endometriomas or endometrioid tumors. Homogenous shading was the most prevalent pattern in endometriomas and half of the cases with focal/multifocal shading within a complex mass were endometrioid carcinomas.

A 63-Year-Old Woman Presenting with a Synovial Sarcoma of the Hand: a Case Report

INTRODUCTION: Synovial sarcoma is a high-grade, soft-tissue sarcoma that most frequently is located in the vicinity of joints, tendons or bursae, although it can also be found in extra-articular locations. Most patients with synovial sarcoma of the hand are young and have a poor prognosis, as these tumors are locally aggressive and are associated with a relatively high metastasis rate. According to the literature, local recurrence and/or metastatic disease is found in nearly 80% of patients. Current therapy comprises surgery, systemic and limb perfusion chemotherapy, and radiotherapy. However, the 5-year survival rate is estimated to be only around 27% to 55%. Moreover, most authors agree that synovial sarcoma is one of the most commonly misdiagnosed malignancies of soft tissues because of their slow growing pattern, benign radiographic appearance, ability to change size, and the fact that they may elicit pain similar to that caused by common trauma. CASE PRESENTATION: We describe an unusual case of a large synovial sarcoma of the hand in a 63-year-old Caucasian woman followed for 12 years by a multidisciplinary team. In addition, a literature review of the most pertinent aspects of the epidemiology, diagnosis, treatment and prognosis of these patients is presented. CONCLUSION: Awareness of this rare tumor by anyone dealing with hand pathology can hasten diagnosis, and this, in turn, can potentially increase survival. Therefore, a high index of suspicion for this disease should be kept in mind, particularly when evaluating young people, as they are the most commonly affected group.

A Brother or a Sister With CP. How Much it Makes a Difference in Childhood and Adulthood?

Every month we see to be published dozens of scientific papers about etiology and physiopathology of CP, imaging, treatment, survival, quality of life of patients and of mothers (just a few) and so on. Papers dealing with the feelings and the problems of siblings of children and adults with CP in the most important scientific journals are extremely rare. However in internet we can find the sites of the most important Cerebral Palsy Societies, like the British, the Australian and the American ones already devoting a special attention to the issue of siblings; we also can see several interesting blogs of parents sharing their experiences not only with the handicapped child but also with the siblings, even counseling some books written for children giving practical advices how to deal and live with a handicapped sibling. What was a surprise to me were the several sites of adults having a disabled sibling, frequently with CP, in a new situation: without parents to care them.

Atypical Phenotype in Two Patients with LAMA2 Mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients underwent clinical, histopathological, imaging and genetic studies. Both cases have two heterozygous LAMA2 variants sharing a potentially pathogenic missense mutation c.2461A>C (p.Thr821Pro) located in exon 18. Brain MRI was instrumental for the diagnosis, since muscular examination and motor achievements were normal in the first patient and there was a severe cardiac involvement in the second. The clinical phenotype of the patients is markedly different which could in part be explained by the different combination of mutations types (two missense versus a missense and a truncating mutation).

Neuroendocrine Tumours of the Female Genital Tract: a Case-Based Imaging Review with Pathological Correlation

BACKGROUND: Both primary and secondary gynaecological neuroendocrine (NE) tumours are uncommon, and the literature is scarce concerning their imaging features. METHODS: This article reviews the epidemiological, clinical and imaging features with pathological correlation of gynaecological NE tumours. RESULTS: The clinical features of gynaecological NE tumours are non-specific and depend on the organ of origin and on the extension and aggressiveness of the disease. The imaging approach to these tumours is similar to that for other histological types and the Revised International Federation of Gynecology and Obstetrics (FIGO) Staging System also applies to NE tumours. Neuroendocrine tumours were recently divided into two groups: poorly differentiated neuroendocrine carcinomas (NECs) and well-differentiated neuroendocrine tumours (NETs). NECs include small cell carcinoma and large cell neuroendocrine carcinoma, while NETs account for typical and atypical carcinoids. Cervical small cell carcinoma and ovarian carcinoid are the most common gynaecological NE tumours. The former typically behaves aggressively; the latter usually behaves in a benign fashion and tends to be confined to the organ. CONCLUSION: While dealing with ovarian carcinoids, extra-ovarian extension, bilaterality and multinodularity raise the suspicion of metastatic disease. NE tumours of the endometrium and other gynaecological locations are very rare. TEACHING POINTS: • Primary or secondary neurondocrine (NE) tumours of the female genital tract are rare. • Cervical small cell carcinoma and ovarian carcinoids are the most common gynaecological NE tumours. • Cervical small cell carcinomas usually behave aggressively. • Ovarian carcinoids tend to behave in a benign fashion. • The imaging approach to gynaecological NE tumours and other histological types is similar.

Ventilação de Alta Frequência Oscilatória Exclusiva com Optimização do Volume Pulmonar no Recém-Nascido de Extremo Baixo Peso (Estudo Comparativo com Ventilação de Alta Frequência Oscilatória após Ventilação Convencional)

Objectivo: A Ventilação de Alta Frequência Oscilatória (VAFO) tem ainda poucos anos de utilização em Portugal. Os seus resultados pouco uniformes têm sido relacionados com o tipo de estratégia utilizada. A optimização do volume pulmonar com utilização de uma estratégia de alto volume, tem vindo a definir-se como a estratégia mais eficaz. Considerámos como objectivos prioritários, a avaliação dos benefícios desta técnica na redução da mortalidade e na redução da morbilidade respiratória precoce e tardia, na retinopatia da prematuridade (ROP) e na hemorragia intraperiventricular (HIPV). Doentes e Métodos: Desde 1 de Janeiro de 1999 até 31 de Março de 2000 (15 meses), usámos esta estratégia ventilatória no Recém Nascido de Muito Baixo Peso (RN MBP). Utilizámos VAFO como modalidade ventilatória exclusiva e imediatamente após intubação traqueal ou após chegada do RN à Unidade de Cuidados Intensivos neonatais (UCIN). Iniciámos de imediato a Optimização do Volume Pulmonar (OPT). A administração de surfactante só foi efectuada após critério de pulmão optimizado. Foram ventilados com esta técnica, 154 RN com idade gestacional < 34 semanas com DMH/SDR e necessitando de ventilação mecânica. Destes RN, o grupo com peso de nascimento (PN) < 950 gramas e idade gestacional entre 25-29 semanas (Coorte VAFO/OPT = 36 RN) foi comparado com uma Coorte histórica de VAFO após curto período de ventilação convencional (VC) de 1997-1998 (grupo VC + VAFO = 27 RN). Ambos os grupos tiveram a Doença das Membranas Hialinas(DMH) como diagnóstico primário. Local de Estudo: Unidade de Cuidados Intensivos Neonatais da Maternidade Dr. Alfredo da Costa (12 postos de ventilação permanente). Resultados: Os dois grupos comparados (VAFO/OPT e VC + VAFO) foram semelhantes nos dados demográficos (peso, idade gestacional, sexo), corticoterapia pré-natal e gravidade radiológica da DMH. Apesar da gravidade radiológica de ambos os grupos ser semelhante, o tipo de estratégia ventilatória utilizada no grupo VAFO/OPT, ou seja, a optimização do volume pulmonar, permitiu uma menor administração do surfactante. O tempo de ventilação e o tempo de oxigenação (dias de 02) foi estatisticamente inferior no grupo VAFO/OPT (respectivamente p=0,000 e p=0.003), tal como a HIPV, ROP e mortalidade (respectivamente p=0,0029, p=0,009 e p=0,031). A Doença Pulmonar Crónica (DPC) foi percentualmente bastante inferior neste grupo (p=0,051). Conclusão: A VAFO como modalidade ventilatória exclusiva, iniciada imediatamente após intubação traqueal e/ou chegada do RN à UCIN e com optimização do volume pulmonar, encurtou a necessidade de suporte respiratório e de oxigenação e melhorou a morbilidade pulmonar no RN MBP com DMH.