Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.

〈 We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia of the renal, hepatic and pancreatic tissues. To investigate the molecular cause, we used an exome sequencing strategy followed by Sanger sequencing. Two rare variants, both predicted to result in loss of functional protein, were identified in the IFT140 gene; a substitution at the splice donor site of exon 24 (c.723 + 1 G > T) and a 17 bp deletion, impacting the first coding exon (c.-11_6del). The variants were confirmed as being biallelic using Sanger sequencing, showing that the splice variant was inherited from the propositus mother and the deletion from the father. To date, Mainzer-Saldino syndrome, Jeune syndrome, and a form of nonsyndromic retinal dystrophy, have been identified as ciliopathies caused by IFT140 mutations. We provide the first description of an OTCS phenotype that appears to result from IFT140 mutations. The presentation of this patient is consistent with previous reports showing that OTCS already exhibited skeleletal and nonskeletal features of a ciliopathy.

Antonio Vena fue el primero / Antonio Vena was the first

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Invasive lobular carcinoma of the breast with extracellular mucin: A case report.

BACKGROUND: Invasive lobular carcinoma is the second most common histological type of breast carcinoma, accounting for approximately 5%-15% of all invasive breast cancers. The extracellular mucin secretion is by default a feature of ductal carcinoma. Only four cases of infiltrative lobular carcinoma with extracellular mucin have been report. CASE SUMMARY: A 60 year old female asymptomatic patient with palpable breast mass and architectural distortion by mammography on external upper quadrant of the right breast was diagnosed as invasive lobular carcinoma with extracellular mucin in the resection, confirmed with immunohistochemistry markers. DISCUSSION: Previous report in the literature of four cases of Invasive lobular carcinoma of breast with extracellular mucin, all of them sharing the same histologic features: the presence of extracellular and intracellular mucin with appearance of infiltrates lobular carcinoma with signet ring cells and "Indian files". CONCLUSION: It is important to know that extracellular mucin production is not exclusive of ductal lesions and keep in mind the lobular carcinomas with extracellular mucin as a differential diagnosis.

Effect of pore diameter in nanoporous anodic alumina optical biosensors.

The influence of pore diameter over the optical response of nanoporous anodic alumina (NAA) films is analyzed by reflectance interference spectroscopy. NAA films manufactured by a two-step anodization procedure in oxalic acid exhibiting three well-defined pore diameter distributions with pores of 32 ± 4, 50 ± 3, and 73 ± 2 nm are studied. The optical detection of biomolecules is investigated by serially dosing protein A, human IgG and anti-human IgG into a nanoporous matrix using a custom-made flow cell. The results demonstrate that the transduction signal, the variation of effective optical thickness upon IgG binding to protein A (ΔEOT), depends on the nanopore diameter: for small pore diameter (32 nm) no significant differences in signals are observed for different protein concentrations whereas for larger pore diameters (50 nm and 73 nm) the signals increase for increasing concentrations from 10 to 100 µg mL(-1). Our experiments also show that this signal can be further enhanced by amplification with anti-human IgG due to the multiple binding events between the antigen and the antibody. These results will enable the development of more sensitive interferometric biosensors based on NAA.

Secondary malignant transformation of testicular teratomas: case series and literature review.

BACKGROUND: Teratomas are a spectrum of neoplasms that can undergo malignant transformation. In the World Health Organization (WHO) classification of tumors, this entity was classified as «teratoma with somatic-type malignancy¼, was defined as a malignant neoplasm of non-germinal phenotype that originates in a teratoma. MATERIALS AND METHODS: We present a serie of nine cases of testicular teratomas with secondary malignant transformation. From January 1995 to December 2011, we found a total of 306 cases of testicular tumors. Mixed germ cell tumors were the most frequently diagnosed malignancy with 45.7%. RESULTS: Teratoma with secondary malignant transformation, represented 2.9% of all germinal tumors. Five cases originated within a mixed germ cell tumor, two cases from mature teratomas, and two from immature teratomas. The predominante malignant somatic component were sarcomas; two cases of chondrosarcoma, one rhabdomyosarcoma, and one case showing foci of chondrosarcoma and rhabdomyosarcoma. The case of osteosarcoma is notable for its rarity. Two cases showed epithelial malignancy in the form of an adenocarcinoma, and finally, two cases were primitive neuroectodermal tumors. At the time of diagnosis, five patients had metastases. CONCLUSION: The transformation of germ cell tumors to somatic type malignancies is rare. The malignant component can originate from any of the three germ lines. These tumors are resistant to standard chemotherapy for a germ cell tumor and the clinical stage is the most important prognostic factor. At our institution, the malignant component that appeared most frequently was chondrosarcoma.

Effects of a combined oral contraceptive containing oestradiol valerate/dienogest on hormone withdrawal-associated symptoms: results from the multicentre, randomised, double-blind, active-controlled HARMONY II study.

The objective of this multicentre, randomised, double-blind study was to compare a combined oral contraceptive (COC) containing oestradiol valerate/dienogest (E2V/DNG) administered in a dynamic dosing regimen with a monophasic COC containing ethinyloestradiol/levonorgestrel (EE/LNG), with regard to their ability to reduce the frequency and intensity of headache and pelvic pain in women with hormone withdrawal-associated symptoms (HWAS). Women aged 18-50 years received E2V/DNG in an oestrogen step-down and progestin step-up regimen (26/2 regimen; n = 223) or EE 20 µg/LNG 100 µg (21/7 regimen; n = 218) over six cycles. Headache and pelvic pain were assessed using a visual analogue scale (VAS) during cycle days 22-28. Rescue medication use was also assessed. E2V/DNG was superior to EE/LNG with regard to reducing the frequency and intensity of headache and pelvic pain from baseline to cycle 6 (change from baseline in the average of the three highest VAS values [mean ± standard deviation]: 47.7 ± 29.4 vs 34.5 ± 25.7 mm, respectively; p < 0.0001). The use of rescue medication was also significantly reduced with E2V/DNG compared with EE/LNG (p < 0.05). E2V/DNG may be a good option for women who experience HWAS with traditional 21/7-day regimen COCs.

Inadequate fine needle aspiration biopsy samples: pathologists versus other specialists.

BACKGROUND: Fine needle aspiration biopsy (FNAB) is a simple, sensitive, quick and inexpensive method in which operator experience is essential for obtaining the best results. METHODS: A descriptive study in which the aspiration biopsy cases of the Pathology and Cytopathology Service of the University Hospital of the UANL (2003-2005) were analyzed. These were divided into three study groups: Group 1, FNAB performed by a pathologist; Group 2, FNAB performed by specialists who are not pathologists, Group 3, FNAB guided by an imaging study with immediate evaluation by a pathologist. The samples were classified as adequate and inadequate for diagnosis, the organ, the size and characteristics of the lesions were taken into consideration. RESULTS: A total of 1905 FNAB were included. In Group 1: 1347 were performed of which 1242 (92.2%) were adequate and 105 (7.7%) were inadequate. Of the 237 from Group 2, 178 were adequate (75.1%) and 59 inadequate (24.8%); in Group 3 there were 321 of which 283 (88.1%) were adequate and 38 (11.8%) inadequate. A statistically significant difference was found between FNAB performed by Group 1 (p< 0.001) and the other groups. A multivariate analysis was done where the organ punctured, the study groups, the size and characteristics of the lesion by study group were compared, finding that the most important variable was the person who performed the procedure. CONCLUSION: The experience and training of the person performing the aspiration biopsy, as well as immediate evaluation of the material when it is guided, substantially reduces the number of inadequate samples, improving the sensitivity of the method as well as reducing the need for open biopsies to reach a diagnosis.

Quality of life in morbid obesity.

INTRODUCTION: Morbid obesity (MO) is a chronic disease that is reaching epidemic proportions and becoming an increasing health problem in developed countries. Obesity-related comorbidities reduce both the quality and expectancy of life. OBJECTIVES: To validate the GIQLI (Gastrointestinal Quality of Life Index) test as a reliable and effective tool for the evaluation of quality of life in morbidly obese patients. PATIENTS AND METHODS: The GIQLI test is made up of 36 individually scored items, the addition of which give up a final score. A higher score correlates with a better quality of life. Items can be separated into five groups or dimensions: digestive symptoms, emotional status, effects of treatment, and physical as well as social dysfunction. The GIQLI test was administered to a randomized sample of 1990 morbidly obese patients who fulfilled the indication criteria for bariatric surgery, and to a control group of 100 healthy individuals with no known medical, functional or psychiatric disease. Overall test and specific dimension scores were evaluated for each group. RESULTS: Overall test and specific dimension scores were significantly lower in patients with MO when compared to the control group. The overall GIQLI score decreased as age increased, as did the number of associated comorbidities. CONCLUSIONS: The GIQLI test proved to be a rather useful tool to evaluate quality of life in morbidly obese patients. These patients present a poorer quality of life not only because of the presence of digestive symptoms but also because of their emotional, physical, and social status.

Learning curve for laparoscopic Roux-en-Y gastric bypass with totally hand-sewn anastomosis: analysis of first 600 consecutive patients.

BACKGROUND: Laparoscopic Roux-en-Y gastric bypass (LRYGB) is a challenging operation for the treatment of morbid obesity with well-demonstrated effectiveness in weight lost. There are several variations to the technique. METHODS: From September 2000 to July 2004, 600 consecutive patients underwent surgery for morbid obesity at our institution. The surgical technique employed was LRYGB with totally hand-sewn gastrojejunal anastomosis (GJA). All patients were considered candidates for laparoscopic approach regardless of age, gender, body mass index (BMI), or previous bariatric or digestive surgery. RESULTS: Mean BMI was 44.4 +/- 7.6 kg/m2. Thirty-two patients had undergone previous failed bariatric procedures. Conversion to an open procedure was necessary in three patients. Seventy-two patients (12%) developed early complications, including 23 (3.8%) leaks at the GJA (eight in the first 18 patients). Mortality rate was 1.1% (one death was related to GJA leakage). Early and late reoperation rates were 5.3 and 1.8%, respectively. Rate plateau of morbidity and mortality was reached after the first 18 patients when the surgical technique was fully standardized. CONCLUSIONS: LRYGB is a technically demanding procedure for the surgical treatment of morbid obesity with significant morbidity during the learning curve. The learning curve can be soon overcome, reaching a rate plateau of complications after adequate training. Morbidly obese patients should be operated on in expert bariatric surgical laparoscopic units to obtain the best results.

Tumores vasoproliferativos del fondo de ojo / Vasoproliferative tumors of the ocular fundus

Objetivo: Establecer el diagnóstico diferencial con el melanoma de coroides y otros tumores malignos. Métodos: Presentamos una revisión de 5 tumores vasoproliferativos vistos en nuestro Servicio desde 1993; el diagnóstico fue clínico, y se realizó fundamentalmente mediante oftalmoscopia y ecografía oftálmica. Resultados: En 3 de los 5 casos (vistos antes de 1995) se optó por realizar tratamiento mediante braquiterapia con hilos de Iridio192 ante la sospecha de que se tratara de un melanoma de coroides; en los otros 2 casos se procedió a la observación periódica y tratamiento de la patología asociada y complicaciones que determinan en último extremo la agudeza visual final. Conclusiones: Es importante establecer el diagnóstico diferencial con el melanoma de coroides y otros tumores malignos, ya que su tratamiento y pronóstico son diferentes (AU)

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[Vasoproliferative tumors of the ocular fundus]. / Tumores vasoproliferativos del fondo de ojo.

PURPOSE: To establish the differential diagnosis from choroidal melanoma and other malignant tumors. METHODS: We report 5 patients with vasoproliferative tumors studied in our Hospital since 1993; diagnosis was mainly based on clinic appearance of the lesions. Each patient had undergone indirect ophthalmoscopy and ocular echography. RESULTS: Three upon five cases (studied before 1995) were treated with brachytherapy with Ir(192) because they were suspected to be choroidal melanomas. Periodical observation and treatment of associated complications was the treatment of choice in two other cases in which these complications determined the final visual acuity. CONCLUSION: It is important to establish the differential diagnosis between choroidal melanoma and other malignant tumors, as their prognosis and treatment are different.

Nervous lesions as neurologic complications in regional anaesthesiologic block: an experimental model.

The purpose of the study was to evaluate the lesions produced by direct trauma of injection needles in the peripheral nervous trunks. Two types of needles were compared: one with a tip with a 45 degrees inclination, and one with a tip with a 14 degrees in clination. Sprague Dawley rats were used, the sciatic nerve of which had been subjected to repeated injections under direct vision; the results were collected 7, 14, and 21 days after surgery. Both macroscopic and histological observation revealed that the greatest injury was produced using needles that had a tip with a 14 degrees inclination, that was longer, while needles that had a tip with a 45 degrees inclination had a greater tendency to slip and rotate at every attempt at penetration.

Teratoma gástrico inmaduro con gliomatosis torácica en un niño / Gastric teratoma with pleural gliomatosis

Se informa un caso de teratoma gástrico congénito con gliomatosis pleural en un niño del sexo masculino a quien se le detectó un tumor abdominal que fue resecado de la curvatura mayor del estomago. Días después de la cirugía el niño murió y en la autopsia se encontraron implantes gliales en la superficie torácica del diafragma. La mayoría de los teratomas gástricos descritos en la literatura son tumores benignos sin capacidad de matástasis, la gliomatosis torácica asociada con teratoma gástrico no ha sido descrita anteriormente.

Open-label study to assess the efficacy, safety, and tolerability of fluvastatin versus bezafibrate for hypercholesterolemia.

Increased levels of total cholesterol and low density lipoprotein cholesterol (LDL-C) are associated with the development of coronary artery disease, which has become a worldwide public health problem. Clinical trials show that, in the long term, effective lowering of total cholesterol and raising of high density lipoprotein cholesterol (HDL-C) can slow atherosclerosis progression and reduce coronary artery disease risk. This study evaluated the efficacy, safety, and tolerability of fluvastatin versus bezafibrate (slow release) in patients with cholesterol > 241 mg/dL (6.2 mmol/liter) not responding to dietary treatment alone (cholesterol < 300 mg/day for 8 weeks). Patients were divided into 2 groups: group A (13 women, 7 men; mean age, 47.8 +/- 9.7 years; range, 30-70) received 40 mg fluvastatin once daily with their evening meal; group B (14 women, 6 men; mean age, 45 +/- 11 years, range, 25-68) received 400 mg bezafibrate once daily with either breakfast or their evening meal. After 12 weeks of treatment, the mean cholesterol decrease in group A was 27% (from 271 +/- 51.4 to 197.4 +/- 24.3 mg/dL; p < 0.001) versus 8% (from 278.6 +/- 33.2 to 255.8 +/- 20.3 mg/dL; p < 0.005) in group B. At the same time point, LDL-C was significantly decreased in group A (from 197.9 +/- 49 to 107.5 +/- 27.6 mg/dL; p < 0.001) but not in group B (from 181.6 +/- 39.6 to 173.3 +/- 24.3 mg/dL).(ABSTRACT TRUNCATED AT 250 WORDS)

[Lysosomal system in hormonal mechanisms. Review]. / El sistema lisosomal en los mecanismos hormonales. Revisión.

The role of lysosomes in the intracellular mechanism of action of several steroid an proteic hormones has been demonstrated. In presence of the specific hormone the target cell induce membranal changes and the lysosomes are moved toward the nucleus; after this the lysosomal enzymes are released in the perinuclear space. For the moment it is not possible to know the biochemical role of this enzymatic activities upon the nucleic acids function and des-repretion process of specific genes, but the inhibition of lysosomes movement utilizing hormone antagonist or dexamethasone inhibits some reproductive process like the implantation of the mammalian egg. We present herein a review related with the mode action of some hormones through the lysosomes in reproductive processes.

Tumor primario de células germinales del sistema nervioso central en pediatría: presentación de 14 casos / Primary tumor of germinal cells in pediatric central nervous system: presentation of 14 cases

De 200 casos de tumores primarios del sistema nervioso central, 14 (7 por ciento) resultaron tumores de células germinales, histológicamente 11 de ellos fueron germinomas, dos teratomas inmaduros con áreas de coroacarcinoma y tumor de senos endodérmicos (TI-C-TSE) y un teratoma maduro. Las manifestaciones clínicas iniciales fueron de tipo neuronal y endocrinológicas: hidrocefalia (57 por ciento) de campo visual (50 por ciento), ataxia y signos piramidales (43 por ciento), convulsiones (43 por ciento), paresias de pares craneános (36 por ciento), signo de Parinaud (21 por ciento), atrofia óptica 14 por ciento; hiperprolactinemia (43 por ciento), talla baja (43 por ciento), diabetes insípida (43 por ciento), pubertad precoz, hipotiroidismo e insuficiencia adrenal (7 por ciento) respectivamente. Las tomografías computarizadas de cráneo (TCC) evidenciaron el proceso tumoral en el 100 por ciento de los casos, contrastando con las radiografías simples de cráneo que sólo lo mostraron en el 36 por ciento de los casos. El tratamiento en todos fue cirugía y radioterapia sólo uno recibió quimioterapia, el TI-C.TSE con metástasis pulmonar. Concluimos que los germinomas deberán recibir radioterapia como tratamiento inicial. Es imprescindible la TCC, la búsqueda de células exfoliativas en líquido cefalorraquídeo y marcadores tumorales para el diagnóstico, así como las determinaciones hormonales necesarias