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Journal: Archivos argentinos de pediatría

168

Alagille syndrome (AS) is a multisystemic disease autosomal dominant, with variable expression. The major clinical manifestations are: chronic cholestasis, congenital heart disease, posterior embryotoxon in the eye, characteristic facial phenotype, and butterfy vertebrae. AS is caused by mutations in JAGGED1 (more than 90%) and in NOTCH2. Differential diagnosis include: infections, genetic-metabolic diseases, biliary atresia, idiopathic cholestasis. Cholestasis, pruritus and xanthomas have been successfully treated with choleretic agents (ursodeoxycholic acid) and other medications (cholestyramine, rifampin, naltrexone). In certain cases, partial external biliary diversion has also proved successful. Liver transplantation is indicated in children with cirrhosis and liver failure.

Concepts: Medicine, Cancer, Medical terms, Liver, Gastroenterology, Hepatology, Progressive familial intrahepatic cholestasis, Alagille syndrome

1

The ginandroblastoma is an extremely rare ovarian tumor which shows components of granulosa cells and Sertoli/Leydig cells. We describe a case of a twelve-years-old girl who presented abnormal uterine bleeding and progressively growing intraabdominal mass associated with menorrhagia, CA-125 60.4 UI/mL and extension studies reporting cystic mass in the left ovary. She underwent oophorectomy. Pathological study shows a multilocular tumor filled with serous material. Many Call-Exner bodies were observed in the histopathological analysis, 45% of Sertoli/Leydig cells. Immunohistochemistry was reactive for inhibin, calretinin and pCK while AE1/AE3 and CD99 markers were negative. This is the first case report about a multiloculated gynandroblastoma, negative for CD99 in a 12-years-old girl. Thus, the study of this clinical case represents a systematic approach for tumors of the sex cord cells.

Concepts: Cancer, Menopause, Anatomical pathology, Ovarian cancer, Gynecology, Hysterectomy, Ovary, Granulosa cells

1

Introduction. Cervical cancer is the third most common cancer worldwide. The human papilloma virus (HPV) has been identifed as the etiologic agent of cervical and other anogenital cancers. The aim was to perform a systematic review and meta-analysis to evaluate the efficacy and safety of HPV vaccines in preventing cervical intraepithelial neoplasias (CIN) grades 2 and 3, adenocarcinoma in situ (CIN2+) and cervical cancer. Materials and Methods. Major bibliographic databases were searched in July 2011 without any temporal nor language restrictions. Randomizedcontrolled trials that evaluated the efficacy of HPV vaccines against CIN2+ and cervical cancer were included. Results. Four of the 168 publications found were included in a meta-analysis. Among vaccinated women, the relative risk (RR) of developing CIN2+ lesions was 0.45 (95% CI 0.38 to 0.54) for HPV 16, 0.14 (0.08 to 0.25) for HPV 18, and 0.79 (0.68 to 0.93) for oncogenic serotypes not included in the vaccines 31/33/45/52/58. All studies had acceptable safety profiles. Conclusions. Vaccines currently available are effective, safe and capable of preventing CIN2+ lesions, although long term efficacy has not yet been fully tested.

Concepts: Immune system, Cancer, Cervical intraepithelial neoplasia, Human papillomavirus, Cervical cancer, Carcinoma in situ, HPV vaccine, Vaccine

0

Patient safety and quality of care has become a challenge for health systems. Health care is an increasingly complex and risky activity, as it represents a combination of human, technological and organizational processes. It is necessary, therefore, to take effective actions to reduce the adverse events and mitigate its impact. This glossary is a local adaptation of key terms and concepts from the international bibliographic sources. The aim is providing a common language for assessing patient safety processes and compare them.

Concepts: Health care, Health care provider, Health economics, Medicine, Healthcare, Health, Clinical trial, Illness

0

Bazex-Dupré-Christol syndrome is an X-linked dominantly inherited disorder characterized by congenital hypotrichosis, hypohidrosis, follicular atrophoderma, multiple milia and basal cell carcinomas. We present a girl and her family with this syndrome. Our patient, her 5 month old brother and her 17 year old brother had multiple milia and scalp and eyebrows hypotrichosis. Her 8 year old brother had multiple milia and follicular atrophoderma. Her mother had hypohidrosis and congenital scalp and eyebrows hypotrichosis, as well as a right paranasal lesion suggestive of basal cell carcinoma. We emphasize the importance of precise diagnosis and clinical follow up of these patients due to the possibility of developing basal cell carcinomas.

Concepts: Family, Genetics, Cancer, Medical terms, Epithelium, Anatomical pathology, Squamous cell carcinoma, Basal cell carcinoma

0

Pediatric ocular trauma is common and the leading cause of non congenital unilateral blindness. The information in developing countries is scarce. The objective of this case series is to describe clinical and epidemiological characteristics of ocular trauma in children under 14 years of age who visited Hospital Dr. Rodolfo Robles Valverde in Guatemala City in 2010. In this study 119 patients were included. School-aged (7-9 years) male gender was the most affected. Closed globe injury was the commonest. The most frequent objects causing the lesions were: wooden objects, toys and chemicals. Trauma occurred most frequently at home. Twenty one of the patients were surgically intervened. Education and prevention programs for pediatric ocular trauma are necessary.

Concepts: Medicine, Causality, Hospital, Gender, Physician, Frequentative, German language, Inflection

0

Hyaline fibromatosis syndrome is a rare autosomal recessive disease characterized by the presence of contracture and joint pain, hyperpigmented plaques and nodules and gingival hypertrophy. These findings are the result of the accumulation of a hyaline amorphous material similar to collagen type VI in different tissues. This syndrome includes systemic hyalinosis and juvenile hyaline fibromatosis, two entities that for years were considered separately. However, it has been documented that the cause of both entities is located in the same gene and the clinical features and age of presentation are overlapped. In this study two cases of sisters from a same colombian family affected by the disease are presented.

Concepts: Family, Allele, Case, Sibling

0

The diagnosis of Cerebellar Cognitive Affective Syndrome should be considered in patients with cerebellar lesions who also suffer cognitive deficits associated with visuospatial or executive neuropsychological disorders, expressive language disorders and affective disorders.

Concepts: Cognition, Cognitive science, Language, Expressive language disorder

0

Posterior reversible encephalopathy is a rare disease in children. Clinical manifestations include headache, seizures, visual disturbances and altered consciousness associated with typical magnetic resonance images of the nervous system. The syndrome usually manifests in patients with eclampsia, solid organ transplantation, haematologic, renal and autoimmune diseases among other less common causes and it is often triggered after a hypertensive crisis or use of immunosuppressive drugs. Less common pathogenic factors as blood transfusion, use of immunoglobulins or an underlying infection can be associated. In this case a girl with systemic lupus erythematosus and exposed to multiple etiopathogenic factors developed posterior reversible encephalopathy.

Concepts: Immune system, Rheumatoid arthritis, Systemic lupus erythematosus, Lupus erythematosus, Glomerulonephritis, Immunosuppressive drug, Headache, Antiphospholipid syndrome

0

Coarctation of the aorta, repaired in childhood, is a congenital heart disease frequently seen in adulthood. In these patients there is a higher incidence ofhypertension during daily activities and exercise despite a correct surgical repair. Since hypertension may only be seen by ambulatory blood pressure monitoring (occult arterial hypertension) we should also look for indirect signs, such as the development of left ventricular hypertrophy.

Concepts: Blood, Hypertension, Cardiology, Heart, Blood pressure, Left ventricular hypertrophy, Aorta, Left ventricle