Objectives: Steroid 5α-reductase type 2 deficiency (5α-RD2) is an autosomal recessive disorder caused by mutations in the gene. This condition is characterized by reduced enzymatic activity of the 5α-reductase type 2 enzyme. Individuals with mutations in the gene may exhibit various symptoms of under-masculinization in 46, XY individuals.
View Article and Find Full Text PDFNonoperative treatment of rectal cancer is gaining popularity. Several trials recently demonstrated advantages in disease-free survival with total neoadjuvant treatment (TNT) with the addition of the watch and wait (WW) strategy for locally advanced rectal cancer. On longer follow-up, an unexpected increased risk in local recurrence in the TNT group at the RAPIDO trial suggested early surgery for nonresponding tumours.
View Article and Find Full Text PDFLaparoscopy was introduced more than 100 years ago. However, in some fields its use still meets resistance. Technology such as laparoscopy may help to identify rare and complex disorders, even in very ordinary procedures, such as inguinal hernia repair.
View Article and Find Full Text PDFUrology
December 2021
This report describes an adolescent with Mixed Gonadal Dysgenesis and unexpected mosaicism [karyotype 46,X,mar(Y)/ 47,X, mar(Y),+mar(Y)].). Diagnosis with 1 month of age due to atypical genitalia.
View Article and Find Full Text PDFHoloprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide phenotypic variability and causal heterogeneity make genetic counseling difficult. Heterozygous variants with incomplete penetrance and variable expressivity in the , , , and genes explain ∼25% of the known causes of nonchromosomal HPE.
View Article and Find Full Text PDFEpidemiol Serv Saude
October 2021
Objective: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc).
Methods: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society.
Most patients with familial adenomatous polyposis (FAP) will develop duodenal polyps and 5% progress to cancer. Those with Spigelman stage IV have a 36% risk of cancer at 10 years. Endoscopic surveillance is necessary with local ablation for early disease.
View Article and Find Full Text PDFContext: Zinc-oxide eugenol (ZOE) is frequently used due to its satisfactory biological response, sedative effect on the pulp, and easy removal. However, literature is very controversial about the influence of the temporary cement-containing eugenol on the bond strength properties.
Aims: This study aims to clarify the literature controversy by evaluating the bond strength of ZOE or ZOE-free applied before bonding procedures and the 7-day resting period after the first session.
Background And Aim: Enteral nutrition (EN) is applicable to adult Crohn's disease (CD) in treating malnutrition and in inducing remission - here as a less effective alternative than corticosteroids. The purpose of this review is to determine whether preoperative EN impacts postoperative complications of adult CD, either by means of nutritional or therapeutic effects.
Summary: A systematic review of English written full-text research articles published between January 1990 and November 2017, including adult patients undergoing abdominal surgery for complicated CD after EN, was performed.
Appropriate management of disorders of sex development (DSD) has been a matter of discussion since the first guidelines were published in the 1950s. In the last decade, with the advent of the 2006 consensus, the classical methods, especially regarding timing of surgery and sex of rearing, are being questioned. In our culture, parents of DSD newborns usually want their children to undergo genital surgery as soon as possible after sexual assignment, as surgery helps them to confirm the assigned sex.
View Article and Find Full Text PDFMolecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development (DSD) individuals with atypical genitalia. The Wilms' tumour factor-1 (WT1) gene is involved in early gonadal development in both sexes. Classically, WT1 deleterious variants are associated with 46,XY disorders of sex development (DSD) because of gonadal dysgenesis.
View Article and Find Full Text PDFMyeloid sarcoma (MS) is a rare condition that most commonly occurs in the setting of acute myeloidleukaemia (AML) or other chronic myeloproliferative disorders. It presents as an abnormal growth that can develop anywhere in the human body, and its clinical manifestations are often non-specific.We present the case of a patient admitted to the emergency room with bowel obstruction.
View Article and Find Full Text PDFDeletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and systems biology strategies, to establish the cytogenomic profile involving the 4p16.
View Article and Find Full Text PDFCampomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may be sex-reversed.
View Article and Find Full Text PDFIn some cases Neu-Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the prenatal and postnatal findings in a fetus with one of the most severe NLS phenotypes described so far, caused by a homozygous nonsense mutation of PHGDH. Serial ultrasound (US) and pre- and postnatal magnetic resonance imaging (MRI) evaluations were performed.
View Article and Find Full Text PDFObjective: To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital.
Methods: A blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July of 2011 and December of 2012. All potential DNA copy number variations detected (CNVs) were matched with those reported in public genomic databases, and their clinical significance was evaluated.
Purpose: To analyze the perinatal mortality rate in cases of gastroschisis and possible associated factors.
Methods: A retrospective cohort study was conducted between 1992 and 2012. All cases of gastroschisis born in Hospital de Clínicas de Porto Alegre (HCPA) during that period were included.
Thalidomide is the best-known teratogen worldwide. It was first marketed as a sedative in the late 1950s, but the birth of ~10 000 children with birth defects resulted in the withdrawal of thalidomide from the market in 1962. Thalidomide embryopathy affects almost all organs but the main defects are concentrated in the limbs, eyes, ears, and heart.
View Article and Find Full Text PDFRationale And Objectives: To prospectively evaluate perfusion computed tomography (CT) for assessment of changes in tumor vascularity after chemoradiation therapy (CRT) in locally advanced rectal cancer and to analyze the correlation between baseline perfusion parameters and tumor response.
Materials And Methods: Twenty patients with rectal cancer underwent baseline perfusion CT before CRT, and in 11 an examination after CRT was also performed. For each tumor, blood flow (BF), blood volume (BV), mean transit time (MTT), and permeability-surface area product (PS) were quantified.
The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD), among other malformations. In Brazil, there are still babies born with thalidomide embryopathy (TE) because of leprosy prevalence, availability of thalidomide, and deficiencies in the control of drug dispensation. Our objective was to implement a system of proactive surveillance to identify birth defects compatible with TE.
View Article and Find Full Text PDFInitially described 40 years ago (Rosai), the undifferentiated osteoclastic-type giant cell carcinoma (IOGCC) is a variant of ductal adenocarcinoma and accounts for less than 1% of exocrine pancreatic tumors. Its extreme rarity, with consequent existence of few reports and clinical experience, leads to the arousal of doubts with regard to its histogenesis, types of approach and therapeutical attitudes. It is important to note that in Portugal no similar case is registered in medical literature.
View Article and Find Full Text PDFThe Richieri-Costa/Pereira form of acrofacial dysostosis is an autosomal-recessive condition characterized by short stature, Pierre-Robin sequence, preaxial and postaxial abnormalities in hands, congenital talipes, cleft mandible and malformations of the larynx. We report female infant presenting with severe micrognathia, a hypoplasic clavicle, median mandible cleft, bilateral hand abnormalities and talipes, laryngeal malformations, hip subluxation with acetabular dysplasia and mesomelic shortening of limbs. A few reported patients have clavicular hyploplasia but hip subluxation with acetabular dysplasia and mesomelic shortening of limbs have not been described.
View Article and Find Full Text PDFThe 22q11.2 deletion syndrome is a developmental field defect of the third and fourth pharyngeal pouches characterized by a spectrum of thymic and parathyroid gland abnormalities and conotruncal cardiac defects. Latent hypoparathyroidism, defined as normocalcaemia at rest but reduced ability to secrete parathyroid hormone (PTH) in response to pharmacologically evoked hypocalcaemia, is found in 30-50% of people with this syndrome.
View Article and Find Full Text PDFObjectives: Hepatitis A vaccine has not been investigated in children with Down syndrome. The aim of this study was to evaluate immunogenicity and safety of an inactivated hepatitis A vaccine in noninstitutionalized children with Down syndrome and compare their responses to those of healthy control children.
Methods: An open, prospective, controlled trial of 127 children ages 1 to 12 years, 63 with Down syndrome and 64 healthy control subjects, was conducted at a single hospital.
The KBG syndrome is characterized by short stature, macrodontia, a specific combination of minor anomalies, developmental delay, and/or mental retardation. We reported on four patients from three unrelated families. The most frequent clinical findings were: atypical face, long/flat philtrum, thin upper lip, macrodontia, dental malposition, enamel hypoplasia, and cleft teeth.
View Article and Find Full Text PDF