Eyebrow anomalies as a diagnostic sign of genomic disorders.

Microdeletions and microduplications in the human genome, termed genomic disorders, contribute to a high proportion of human multisystemic neurodevelopmental diseases and are detected by array-based comparative genomic hybridization (aCGH). In general, most genomic disorders are associated with craniofacial and skeletal features and behavioural abnormalities, in addition to learning disability and developmental delay (LD/DD). Specifically, recognition of a characteristic 'facial gestalt' has been the key to distinguish one genomic disorder from the other. Here, we report our experience concerning the relevance of abnormal eyebrow pattern as a diagnostic indicator of specific genomic disorders.

Pilomatrixoma: diagnóstico ecotomográfico / Pilomatrixoma: ultrasound diagnosis

BACKGROUND: Pilomatrixoma is a benign tumor of the skin, preferentially found in children. The final diagnosis is made by biopsy. High resolution ultrasound (US) is a non invasive method for its diagnosis. AIM: To describe the US findings in children with pilomatrixoma. MATERIAL AND METHODS: Fifty five patients with 62 clinically suspected pilomatrixomas were studied by US. All examinations were done with an ATL HDI 5000, linear 5-12 MHz transducer. Pathological study confirmed the diagnosis pilomatrixoma in 52 cases. RESULTS: Fifty of 52 pilomatrixomas were diagnosed by US, with a sensitivity of 96 per cent. The mean age of patients was 7.5 years. Forty seven lesions (90 per cent) were located in the head, neck or upper extremities and their mean size was 8.5 mm. Thirty two lesions were hypodermal, 14 were dermohypodermal and 6 were dermal. In 44 lesions the contour was regular and non delineated, 44 lesions were oval, 41 lesions had an acoustic shadow, 36 were echogenic or hyperechogenic, 31 had a peripheral halo (60 per cent), 55 had calcifications (98 per cent), nine had perilesional vessels, 2 had intratumoral vessels and 7 had inflammatory changes. US excluded the diagnosis of pilomatrixoma in 10 lesions formulating a correct differential diagnosis in eight, with a specificity of 80 per cent. CONCLUSIONS: Pilomatrixomas had two US types of presentation. The first is a well defined nodule with peripheral halo partially calcified or with microcalcifications. The second is a completely calcified nodule without peripheral halo and with a strong acoustic shadow. US is a useful, sensitive and specific diagnostic method for pilomatrixoma.

[Primary epiploic appendicitis: clinical and radiological diagnosis]. / Apendicitis epiploica primaria: diagnóstico clínico y radiológico.

BACKGROUND: Torsion of appendices epiplocae leads to an ischemic infarct of surrounding adipose tissue, causing a syndrome, called "primary epiploic appendagitis" characterized by acute abdominal pain that can simulate a surgical clinical picture. AIM: To describe the clinical picture, ultrasonographic and computed tomographic features of primary epiploic appendagitis. MATERIAL AND METHODS: A report of patients with acute abdominal pain whose diagnosis was a primary epiploic appendagitis, diagnosed and treated in a period of 48 months. RESULTS: Fifty five patients (45 males) aged 16 to 76 years old are reported. Their clinical presentation was acute abdominal pain in the left abdominal quadrant in 48, pain in the right lower quadrant in 4 and epigastric pain in two. Two had mild fever and 12 had nausea. Ten perform physical activities prior to the onset of pain. Imaging examinations showed a 1.5 to 5 cm diameter, uncompressible small mass of adipose origin, located anteriorly and anterolaterally, between the colon and the abdominal wall. There were inflammatory phenomena surrounding the lesion and thickening of the neighboring parietal peritoneum. In all cases, the mass gradually subsided with medical treatment. CONCLUSIONS: Primary epiploic appendagitis is a relatively frequent cause of spontaneously resolving abdominal pain. It is diagnosed by ultrasound or CT scanning.

[Detection and characterization by ultrasonography of soft tissue foreign bodies]. / Detección y caracterización por ultrasonido de cuerpos extraños de partes blandas.

BACKGROUND: Soft tissue foreign bodies are a frequent cause of consultation in emergency rooms. It is difficult to verify their existence since conventional radiology only detects radio opaque objects. Ultrasound can be a useful diagnostic procedure. AIM: To report our experience in the detection of soft tissue foreign bodies by ultrasound examination. PATIENTS AND METHODS: The ultrasonographic appearance of vegetables, glass and plastic, metal, bone and stones was studied in gelatin preparations. In a second stage, 52 patients (27 male, aged 3 to 88 years old) were studied, in whom the presence of a soft tissue foreign body was confirmed surgically. RESULTS: The mean error of the procedure for the assessment of foreign body size was 0.2 mm in vitro and 0.5 mm in vivo. The deepness and involved planes were correctly diagnosed in 96%, the number of fragments were diagnosed correctly in 94% of cases. The type of foreign body was identified correctly in 77% of cases and complications were detected in 100% of cases. CONCLUSIONS: Ultrasound is a sensitive and accurate method for the detection of soft tissue foreign bodies.

Interferon-alpha induces apoptosis in human KB cells through a stress-dependent mitogen activated protein kinase pathway that is antagonized by epidermal growth factor.

We have demonstrated that interferon-alpha2-recombinant (IFNalpha) at growth inhibitory concentrations enhances the expression and signalling activity of the epidermal growth factor receptor (EGF-R) in human epidermoid carcinoma KB cells. Here we report that KB cells exposed to IFNalpha underwent apoptotic cell death and this effect was antagonized by EGF. We have also found that IFNalpha enhanced the expression of heat shock proteins (HSP) HSP-70, HSP-90 and HSP-27 and activated the NH2-terminal Jun kinase-1 (JNK-1) and p38 mitogen activated protein kinase, the target enzymes of a stress-dependent intracellular transduction pathway. Moreover, the overexpression of the wild-type JNK-1, obtained through plasmid transfection of KB cells, induced apoptosis which was potentiated by the exposure of wild-type JNK-1 (JNK-1wt)-transfected cells to IFNalpha. All these effects were neutralized by the addition of EGF to parental and JNK-1wt-transfected KB cells exposed to IFNalpha. In conclusion, EGF has a protective effect on KB cells from apoptosis while antagonizing a stress response elicited by IFNalpha and targeted on the stress pathway terminal kinases.