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.

Low Dose Thalidomide for Treatment of Resistant Discoid Lupus Erythematosus. A Case Report

Discoid lupus erythematosus (DLE) is a chronic, indolent, disfiguring disease that is characterized by scaly, erythematous, disk-shaped patches and plaques followed by atrophy, scarring and depigmentation. In a small number of patients, it is refractory to standard therapies. In several studies, thalidomide has been reported to be an effective treatment in those cases. The most fearful side effects are teratogenicity and neuropathy. Adequate counseling and vigilance must be given to the patients. We report a 45-year-old Portuguese woman who presented with a 20-year history of severe facial and scalp DLE confirmed by histopathology. For several years, it failed to respond to several therapies, including topical, intralesional and oral corticosteroids, hydroxychloroquine, methotrexate, azathioprine and topical tacrolimus. Thalidomide was initiated at a dosage of 50mg/day and the skin lesions had improved dramatically after three weeks with complete clinical remission. Two months later, the dose was reduced to 50mg, five days per week without disease rebound. The patient´s concomitant medications during the treatment included sunscreen, hydroxycholoroquine, enoxaparin and aspirin to prevent thromboembolic events. Pregnancy testing, routine laboratory and electrocardiography were performed at regular intervals for safety monitoring and the results were within normal limits. Only minor side effects as nausea, constipation and somnolence were noted, however, they improved with dose reduction. Our data confirm that thalidomide therapy is an alternative or adjunctive treatment for patients with severe, chronic DLE that is refractory to standard therapies. In this patient, low-dose thalidomide was an effective treatment with minimal side effects.

Saúde Sexual e Reprodutiva das Adolescentes - a Nossa Realidade

Overview and Aims: Several behavioral and biological factors can make adolescents particularly vulnerable to unwanted pregnancies and sexually transmitted diseases. The aim of this study was to evaluate sexual behavior and contraceptive use patterns of a population of adolescents. Study Design: Retrospective study. Population: 163 female adolescents attending an Adolescence Unit for the first time, during 2010. Methods: Analysis of clinical charts and assessment of demographic data, smoking and drinking habits, drug use, gynecologic and obstetric history, sexual behavior and contraceptive use. Results: The mean age was 16.04 years (±1.32). 71.7% were students (of these, 70% had failed one or more years and were behind in their studies), 2.5% were working and 23.9% were neither studying or working. 95.1% had already had sexual intercourse and the mean age of first coitus was 14.53 years (±1.24). There was a history of at least one previous pregnancy in 77.3% of the cases. Before the first appointment at the AU, the contraceptive methods used were: the pill (33.2%, but 41.3% of these reported inconsistent use), and the condom (23.9%, with inconsistent use in 28.3% of these cases). 19.6% did not use any contraceptive method.. After counseling at the AU, 54% of the teenagers chose the contraceptive implant and 35% preferred the pill. Adolescents who had already been pregnant preferred a long acting method (namely, the contraceptive implant)in 61.9% of cases; those who had never been pregnant decided to use an oral contraceptive in 67.6% of cases (p<0.001). Conclusions: After counseling the number of teenagers using contraception increased. In this population there were a high number of adolescents with a previous pregnancy. This factor seems to have influenced the choice of the contraceptive method, with most of these adolescents choosing a long-acting method.

Birt-Hogg-Dubé Syndrome

A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling.

Cutaneous Leiomyomatosis in a Mother and Daughter

A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.

Rotura Uterina em Mulheres com Cesariana Anterior em Prova de Trabalho de Parto

Uterine rupture during a trial of labor after previous cesarean (TOLAC) delivery is a rare, but serious complication. Several factors can increase the risk of uterine rupture, so the assessment of individual risks with adequate counseling is ne - cessary. The initial signs and symptoms are usually nonspecific, hampering timely diagnosis and prompt delivery of the fetus, necessary for optimal outcome. The purpose of this document is to review the risks factors for uterine rupture during TOLAC, as well as the current clinical value of the classically described premonitory signs and symptoms.

Identification of de Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses

The diagnosis of parathyroid carcinomas is often difficult. HRPT2 mutations have been identified in familial [hyperparathyroidism-jaw tumor (HPT-JT) syndrome] and sporadic parathyroid carcinomas, supporting that HRPT2 mutations may confer a malignant potential to parathyroid tumors. In this study, we report the clinical, histopathological, and genetic investigation of two unrelated cases, whom had apparently sporadic malignant parathyroid tumors, initially diagnosed as adenomas. In one case, the differential diagnosis was complicated by cervical seeding of parathyroid tumor cells. Genetic studies identified de novo HRPT2 germline mutations in cases 1 (c.518_521delTGTC [p.Ser174LysfsX27]) and 2 (c.226 C > T [p.Arg76X]), unveiling the hereditary HPT-JT syndrome in both patients. Furthermore, the identification of somatic mutations in the patients‟ parathyroid tumors provided evidence for complete inactivation of the HRPT2 gene, which was consistent with the tumor malignant features. The sensitivity of parafibromin immunostaining to detect HRPT2 mutations was limited. The present data suggests that patients with apparently sporadic parathyroid carcinomas, or parathyroid tumors with atypical histological features, should undergo molecular genetic testing, as it may detect germline HRPT2 mutations. Establishing the diagnosis of hereditary HPT-JT syndrome is relevant for clinical counseling and management of the carriers and their relatives.

Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndromic Sensorineural Hearing Loss Patients

OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.